Eur Respir J. 2021 Dec 16:2101404. doi: 10.1183/13993003.01404-2021. Online ahead of print.

ABSTRACT

Long term noninvasive respiratory support, comprising continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV), in children is expanding worldwide, with increasing complexities of children being considered for this type of ventilator support and expanding indications such as palliative care. There have been improvements in equipment and interfaces. Despite growing experience, there are still gaps in a significant number of areas: there is a lack of validated criteria for CPAP/NIV initiation, optimal follow-up and monitoring; weaning and long term benefits have not been evaluated. Therapeutic education of the caregivers and the patient is of paramount importance, as well as continuous support and assistance, in order to achieve optimal adherence. The preservation or improvement of the quality of life of the patient and caregivers should be a concern for all children treated with long term CPAP/NIV. As NIV is a highly specialised treatment, patients are usually managed by an experienced pediatric multidisciplinary team. This Statement written by experts in the field of pediatric long term CPAP/NIV aims to emphasize on the most recent scientific input and should open up to new perspectives and research areas.

PMID:34916265 | DOI:10.1183/13993003.01404-2021

Eur Respir J. 2021 Dec 16:2101581. doi: 10.1183/13993003.01581-2021. Online ahead of print.

ABSTRACT

RATIONALE: The majority of chronic obstructive pulmonary disease (COPD) patients have chronic bronchitis, for which specific therapies are unavailable. Acquired cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction is observed in chronic bronchitis, but has not been proven in a controlled animal model with airway disease. Furthermore, the potential of CFTR as a therapeutic target has not been tested in vivo, given limitations to rodent models of COPD. Ferrets exhibit cystic fibrosis-related lung pathology when CFTR is absent and COPD with bronchitis following cigarette smoke exposure.

OBJECTIVES: To evaluate CFTR dysfunction induced by smoking and test its pharmacologic reversal by a novel CFTR potentiator, GLPG2196, in a ferret model of COPD with chronic bronchitis.

METHODS: Ferrets were exposed for six months to cigarette smoke to induce COPD and chronic bronchitis and then treated with eneral GLPG2196 once daily for one month. Electrophysiologic measurements of ion transport and CFTR function, assessment of mucociliary function by one-micron optical coherence tomography imaging and particle tracking microrhelogy, microcomputed tomography imaging, histopathological analysis, and quantification of CFTR protein and mRNA expression were used to evaluate mechanistic and pathophysiological changes.

MEASUREMENTS AND MAIN RESULTS: Following cigarette smoke exposure, ferrets exhibited CFTR dysfunction, increased mucus viscosity, delayed mucociliary clearance, airway wall thickening, and airway epithelial hypertrophy. In COPD ferrets, GLPG2196 treatment reversed CFTR dysfunction, increased mucus transport by decreasing mucus viscosity, and reduced brochial wall thickening and airway epithelial hypertrophy.

CONCLUSIONS: The pharmacologic reversal of acquired CFTR dysfunction is beneficial against pathologic features of chronic bronchitis in a COPD ferret model.

PMID:34916262 | DOI:10.1183/13993003.01581-2021

Chronobiol Int. 2021 Dec 16:1-11. doi: 10.1080/07420528.2021.2009505. Online ahead of print.

ABSTRACT

The Earth's rotation generates environmental oscillations (e.g., in light and temperature) that have imposed unique evolutionary pressures over millions of years. Consequently, the circadian clock, a ubiquitously expressed molecular system that aligns cellular function to these environmental cues, has become an integral component of our physiology. The resulting functional rhythms optimize and economize physiological performance: perturbing these rhythms, therefore, is frequently deleterious. This perspective article focuses on circadian rhythms in resistance artery myogenic reactivity, a key mechanism governing tissue perfusion, total peripheral resistance and systemic blood pressure. Emerging evidence suggests that myogenic reactivity rhythms are locally generated in a microvascular bed-specific manner at the level of smooth muscle cells. This implies that there is a distinct interface between the molecular clock and the signalling pathways underlying myogenic reactivity in the microvascular beds of different organs. By understanding the precise nature of these molecular links, it may become possible to therapeutically manipulate microvascular tone in an organ-specific manner. This raises the prospect that interventions for vascular pathologies that are challenging to treat, such as hypertension and brain malperfusion, can be significantly improved.

PMID:34915783 | DOI:10.1080/07420528.2021.2009505

Zhonghua Nan Ke Xue. 2021 May;27(5):450-455.

ABSTRACT

Congenital bilateral absence of the vas deferens (CBAVD) is a congenital malformation of the male reproductive system and one of the important causes of obstructive azoospermia and male infertility. It is currently recognized that the main cause of CBAVD is the mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR). And the mutations of adhesion G protein-coupled receptor G2 (ADGRG2), solute carrier family 9 isoform 3 (SLC9A3) and other genes are also found to be involved in the development and progression of CBAVD. A reasonable CBAVD molecular diagnosis process combined with assisted reproductive technology is currently the most effective method for the diagnosis and treatment of CBAVD, but the offspring of the patient may face the risk of hereditary inheritance. This article focuses on the pathogenesis of CFTR, ADGRG2 and SLC9A3 causing CBAVD, and aims to provide some new ideas for the clinical diagnosis and treatment of CBAVD and CBAVD-related genetic counseling.

PMID:34914322

J Hum Nutr Diet. 2021 Dec 16. doi: 10.1111/jhn.12967. Online ahead of print.

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) is a multisystem disorder that primarily affects the respiratory and gastrointestinal systems. Dietetic therapy is a prominent aspect of CF management, with patients receiving nutritional surveillance and advice throughout their lifetime. The present study aimed to explore the perception, experience and relationship with food and eating in adults with CF.

METHODS: Semi-structured telephone interviews were conducted with nine adults with CF. Interviews were audio-recorded, transcribed verbatim and analysed thematically following a previously described six-phase procedure.

RESULTS: Six themes were identified: 'Sustained influence of eating experience in childhood', 'Eating for health: weight gain to prevent infection', 'Balancing health and body image', 'I'm different,' 'Strategies for managing food intake' and 'Support from family, friends and the CF Team'. Participants talked about the range of strategies they employ, with a focus on eating well and choosing high calorie foods being an important part of their health management strategy. This is driven by the belief that a good weight ensures better health and perceiving eating as a treatment.

CONCLUSIONS: This group felt able to cope well and had developed strategies to manage their dietary needs. Food experience was variable throughout their lifetime, with childhood experience having a sustained effect on adult eating behaviour. Weight gain, body image and dietary health implications are considerable concerns for patients. New CF transmembrane modulator treatments (CFTR modulators) are changing the dietary needs of this population. It is important that these issues are explored during dietetic consultations to identify barriers to dietary change.

PMID:34914145 | DOI:10.1111/jhn.12967

Paediatr Drugs. 2021 Dec 16. doi: 10.1007/s40272-021-00486-8. Online ahead of print.

ABSTRACT

OBJECTIVE: The aim was to assess the awareness and real-life use of biosimilars in inflammatory bowel disease (IBD) among the members of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP).

METHODS: An anonymous web survey involving all SIGENP IBD units which can prescribe biosimilars was conducted between July 1st and December 1st, 2020. The questionnaire included 18 questions addressing the most relevant aspects of biosimilars in pediatric IBD, i.e., advantages, disadvantages, costs, traceability, general knowledge, and real-life use. A descriptive analysis of responses was performed.

RESULTS: Responses came from 26 pediatric IBD units in Italy, with representation of the North, the Center, and the South of Italy. The majority of participants (n = 20) had spent > 10 years caring for pediatric IBD patients, and worked in a center which had between 100 and 500 registered pediatric IBD patients (n = 14). Most participants (n = 18) reported they were aware that biosimilars have similar efficacy and safety to those of the originator, and all regarded cost-sparing as the main advantage of biosimilars. Most respondents (n = 20) reported they switch from originator to biosimilar in their everyday clinical practice, mostly during the maintenance phase. Most respondents (n = 20) registered no acute adverse events. Nearly all participants felt totally or very confident in using biosimilars.

CONCLUSIONS: A few years after the introduction of the first biosimilar into the market, real-life data coming from the major IBD units in Italy confirm a favorable and confident position on the use of biosimilars in pediatric IBD.

PMID:34914084 | DOI:10.1007/s40272-021-00486-8

Int Forum Allergy Rhinol. 2021 Dec 16. doi: 10.1002/alr.22938. Online ahead of print.

ABSTRACT

BACKGROUND: Bitter (T2Rs) and sweet (T1Rs) taste receptors are involved in the innate immune response of the sinonasal cavity and associated with chronic rhinosinusitis (CRS). Growing evidence suggests extraoral taste receptors as relevant biomarkers, but current understanding is incomplete. This systematic review synthesizes current evidence of extraoral taste receptors in CRS.

METHODS: PubMed, Embase, Cochrane, Web of Science, and Scopus were reviewed in accordance with Preferred Reporting Items for Systemic Reviews and Meta-Analyses (PRISMA) guidelines and included studies of genotypic and phenotypic T2R/T1R receptor status in CRS patients.

RESULTS: Twenty-two studies with 3,845 patients were included. Seventeen studies evaluated genotype and 10 evaluated taste phenotypes. Four of six studies examining the haplotype distribution of the T2R, TAS2R38, demonstrated increased AVI/AVI haplotype ("non-taster") frequency in CRS. Meanwhile, two studies demonstrated decreased bitter sensitivity in CRS with nasal polyposis (CRSwNP) while three other studies reported decreased bitter sensitivity only in CRS without nasal polyposis (CRSsNP). Findings regarding sweet sensitivity were mixed. Three studies with cystic fibrosis patients (n=1,393) were included. Studies investigating the association between clinical outcomes and TAS2R38 alleles were limited, but the nonfunctional combination of AVI/AVI was associated with increased utilization of sinus surgery and, in CRSsNP patients, with poorer improvement of symptoms postoperatively.

CONCLUSIONS: Both genotypic and phenotypic assessments of T2Rs suggest a potential association with CRS, particularly CRSsNP. However, limited evidence and mixed conclusions cloud the role of T2Rs in CRS. Future investigations should aim to increase diverse populations, broaden institutional diversity, examine T1Rs, and utilize uniform assessments. This article is protected by copyright. All rights reserved.

PMID:34913601 | DOI:10.1002/alr.22938

ERJ Open Res. 2021 Dec 13;7(4):00247-2021. doi: 10.1183/23120541.00247-2021. eCollection 2021 Oct.

ABSTRACT

Airway inflammation, mucus hyperproduction and epithelial remodelling are hallmarks of many chronic airway diseases, including asthma, COPD and cystic fibrosis. While several cytokines are dysregulated in these diseases, most studies focus on the response of airways to interleukin (IL)-4 and IL-13, which have been shown to induce mucus hyperproduction and shift the airway epithelium towards a hypersecretory phenotype. We hypothesised that other cytokines might induce the expression of chloride (Cl-) channels/transporters, and regulate epithelial differentiation and mucus production. To this end, fully differentiated human airway basal cells (BCi-NS1.1) were treated with cytokines identified as dysregulated in those diseases, namely IL-8, IL-1β, IL-4, IL-17A, IL-10 and IL-22, and tumour necrosis factor-α. Our results show that the cystic fibrosis transmembrane conductance regulator (CFTR) is the main Cl- channel modulated by inflammation, in contrast to transmembrane protein 16A (TMEM16A), whose levels only changed with IL-4. Furthermore, we identified novel roles for IL-10 and IL-22 by influencing epithelial differentiation towards ciliated cells and away from pulmonary ionocytes. In contrast, IL-1β and IL-4 reduced the number of ciliated cells while increasing club cells. Interestingly, while IL-1β, IL-4 and IL-10 upregulated CFTR expression, IL-4 was the only cytokine that increased both its function and the number of CFTR-expressing club cells, suggesting that this cell type may be the main contributor for CFTR function. Additionally, all cytokines assessed increased mucus production through a differential upregulation of MUC5AC and MUC5B transcript levels. This study reveals a novel insight into differentiation resulting from the cross-talk of inflammatory mediators and airway epithelial cells, which is particularly relevant for chronic airway diseases.

PMID:34912883 | PMC:PMC8666577 | DOI:10.1183/23120541.00247-2021

Cureus. 2021 Nov 12;13(11):e19498. doi: 10.7759/cureus.19498. eCollection 2021 Nov.

ABSTRACT

Among patients infected with respiratory viruses, primary coinfection or secondary bacterial pneumonia is common in the severely ill. Pandoraea are multi-drug resistant gram-negative bacilli that have been newly classified in the past 20 years. We present the first reported case of Pandoraea co-infection with SARS-CoV-2 infection. A critically ill gentleman with COVID-19 in acute respiratory distress syndrome (ARDS) requiring mechanical ventilation developed ventilator-associated bacterial pneumonia (VAP). Initial sputum cultures grew Pandoraea species, with subsequent cultures growing P. aeruginosa, and K. pneumoniae as well. The patient failed to improve despite several antibiotic regimens including meropenem. Send-out reference laboratory testing of the Pandoraea species showed susceptibility to amikacin, ciprofloxacin, levofloxacin, imipenem, and minocycline, but resistance to aztreonam, cefepime, ceftazidime, and meropenem. The patient had deteriorated to multi-organ failure by the time minocycline was initiated, and his family had transitioned him into hospice care. Carbapenems are vital agents in the treatment of VAP. Pandoraea species are often resistant to meropenem but often retain in-vitro sensitivity to imipenem-cilastin. Although mainly isolated from respiratory specimens of patients with cystic fibrosis, cases of infection in non-cystic fibrosis patients have been increasingly recognized. The presentation of this case aims to increase awareness of the high drug resistance of this rising species and reduce delays in treatment, especially in COVID-19 coinfection.

PMID:34912637 | PMC:PMC8666094 | DOI:10.7759/cureus.19498

J Cyst Fibros. 2021 Dec 12:S1569-1993(21)02154-8. doi: 10.1016/j.jcf.2021.11.013. Online ahead of print.

ABSTRACT

Ischemic heart disease is rarely reported in people with cystic fibrosis (PwCF) despite multiple potential risk factors. Here we report two cases of ST elevation myocardial infarction (STEMI), both in young women with cystic fibrosis (CF) and cystic fibrosis related diabetes (CFRD). These cases illustrate the importance of considering myocardial injury/infarction in the differential diagnosis of patients with CF and chest pain or shortness of breath, and addressing the growing risk of cardiovascular disease (CVD).

PMID:34911664 | DOI:10.1016/j.jcf.2021.11.013

Am J Respir Crit Care Med. 2021 Dec 15. doi: 10.1164/rccm.202109-2121LE. Online ahead of print.

NO ABSTRACT

PMID:34910604 | DOI:10.1164/rccm.202109-2121LE

Cochrane Database Syst Rev. 2021 Dec 15;12:CD009595. doi: 10.1002/14651858.CD009595.pub3.

ABSTRACT

BACKGROUND: Autogenic drainage is an airway clearance technique that was developed by Jean Chevaillier in 1967. The technique is characterised by breathing control using expiratory airflow to mobilise secretions from smaller to larger airways. Secretions are cleared independently by adjusting the depth and speed of respiration in a sequence of controlled breathing techniques during exhalation. The technique requires training, concentration and effort from the individual but it has previously been shown to be an effective treatment option for those who are seeking techniques to support and promote independence. However, at a time where the trajectory and demographics of the disease are changing, it is important to systematically review the evidence demonstrating that autogenic drainage is an effective intervention for people with cystic fibrosis.

OBJECTIVES: To compare the clinical effectiveness of autogenic drainage in people with cystic fibrosis with other physiotherapy airway clearance techniques.

SEARCH METHODS: We searched the Cochrane Cystic Fibrosis Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books. We also searched the reference lists of relevant articles and reviews, as well as two ongoing trials registers (02 February 2021). Date of most recent search of the Cochrane Cystic Fibrosis Trials Register: 06 July 2021.

SELECTION CRITERIA: We identified randomised and quasi-randomised controlled studies comparing autogenic drainage to another airway clearance technique or no therapy in people with cystic fibrosis for at least two treatment sessions.

DATA COLLECTION AND ANALYSIS: Data extraction and assessments of risk of bias were independently performed by three authors. The authors assessed the quality of the evidence using the GRADE system. The authors contacted seven teams of investigators for further information pertinent to their published studies.

MAIN RESULTS: Searches retrieved 64 references to 37 individual studies, of which eight (n = 212) were eligible for inclusion. One study was of parallel design with the remaining seven being cross-over in design; participant numbers ranged from 4 to 75. The total study duration varied between four days and two years. The age of participants ranged between seven and 63 years with a wide range of disease severity reported. Six studies enrolled participants who were clinically stable, whilst participants in two studies received treatment whilst hospitalised with an infective exacerbation. All studies compared autogenic drainage to one (or more) other recognised airway clearance technique. Exercise is commonly used as an alternative therapy by people with cystic fibrosis; however, there were no studies identified comparing exercise with autogenic drainage. The certainty of the evidence was generally low or very low. The main reasons for downgrading the level of evidence were the frequent use of a cross-over design, outcome reporting bias and the inability to blind participants. The review's primary outcome, forced expiratory volume in one second, was the most common outcome measured and was reported by all eight studies; only three studies reported on quality of life (also a primary outcome of the review). One study reported on adverse events and described a decrease in oxygen saturation levels whilst performing active cycle of breathing techniques, but not with autogenic drainage. Seven of the eight included studies measured forced vital capacity and three of the studies used mid peak expiratory flow (per cent predicted) as an outcome. Six studies reported sputum weight. Less commonly used outcomes included oxygen saturation levels, personal preference, hospital admissions, intravenous antibiotics and pseudomonas gene expression. There were no statistically significant differences found between any of the techniques used with respect to the outcomes measured except when autogenic drainage was described as being the preferred technique of the participants in one study over postural drainage and percussion.

AUTHORS' CONCLUSIONS: Autogenic drainage is a challenging technique that requires commitment from the individual. As such, this intervention merits systematic review to ensure its effectiveness for people with cystic fibrosis, particularly in an era where treatment options are changing rapidly. From the studies assessed, autogenic drainage was not found to be superior to any other form of airway clearance technique. Larger studies are required to better evaluate autogenic drainage in comparison to other airway clearance techniques in view of the relatively small number of participants in this review and the complex study designs. The studies recruited a range of participants and were not powered to assess non-inferiority. The varied length and design of the studies made the analysis of pooled data challenging.

PMID:34910295 | DOI:10.1002/14651858.CD009595.pub3

Int Forum Allergy Rhinol. 2021 Dec 15. doi: 10.1002/alr.22946. Online ahead of print.

NO ABSTRACT

PMID:34908251 | DOI:10.1002/alr.22946

Pediatr Allergy Immunol. 2021 Dec 14. doi: 10.1111/pai.13719. Online ahead of print.

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) is reported to be a risk factor for drug hypersensitivity. However, there is conflicting data about true prevalence of drug hypersensitivity in children with CF.

METHODS: The suspicious drug hypersensitivity reactions (DHR) of children with CF were enquired by European Network for Drug Allergy (ENDA) questionnaire and skin tests and/or drug provocation tests were performed according to the established guidelines.

RESULTS: Two hundred and nineteen children (48.9% boys; median [IQR] age, 8.4 years [4.8-12.4 years]) with cystic fibrosis were included in the study, among which 22 patients with 24 suspected DHRs were evaluated. Most of the suspected DHRs were of non-immediate (n=16, 66.6%) type, and the offending drugs were amoxicillin clavulanic acid (n=7), macrolides (n=4), trimethoprim sulfamethoxazole (TMP/SMX) (n=2), piperacillin tazobactam (n=1), pancrelipase (n=1), and ursodeoxycholic acid (n=1). Eight (33.3%) of the DHRs were classified as immediate [ceftriaxone (n=2), ceftazidim (n=2), meropenem (n=1), ambisome (n=2), vancomycin (n=1)]. The main clinical presentations were maculopapular eruption (41.6%) and urticaria (37.5%), accompanied by angioedema (8.3%), flushing (12.5%), and vomiting (8.3%). Nine skin tests (with beta-lactam protocol in 6 patients) and 24 DPTs were performed and none of the skin tests revealed a positive result, however, 2 DPTs with TMP/SMX were positive.

CONCLUSION: Actual drug hypersensitivity was demonstrated in 2 of 219 patients (0.9%) with non-beta-lactam antibiotics. These results conflict with previous researches that showed higher drug hypersensitivity rates but are consistent with some recent studies. Allergological diagnostic work up is mandatory in patients with cystic fibrosis in case of a suspicious DHR.

PMID:34907613 | DOI:10.1111/pai.13719

J Cyst Fibros. 2021 Dec 11:S1569-1993(21)02163-9. doi: 10.1016/j.jcf.2021.12.005. Online ahead of print.

NO ABSTRACT

PMID:34906432 | DOI:10.1016/j.jcf.2021.12.005

J Cyst Fibros. 2021 Dec 11:S1569-1993(21)02157-3. doi: 10.1016/j.jcf.2021.11.016. Online ahead of print.

NO ABSTRACT

PMID:34906431 | DOI:10.1016/j.jcf.2021.11.016

Stroke. 2021 Dec 15:STROKEAHA121036950. doi: 10.1161/STROKEAHA.121.036950. Online ahead of print.

ABSTRACT

BACKGROUND AND PURPOSE: Circadian rhythms influence the extent of brain injury following subarachnoid hemorrhage (SAH), but the mechanism is unknown. We hypothesized that cerebrovascular myogenic reactivity is rhythmic and explains the circadian variation in SAH-induced injury.

METHODS: SAH was modeled in mice with prechiasmatic blood injection. Inducible, smooth muscle cell-specific Bmal1 (brain and muscle aryl hydrocarbon receptor nuclear translocator-like protein 1) gene deletion (smooth muscle-specific Bmal1 1 knockout [sm-Bmal1 KO]) disrupted circadian rhythms within the cerebral microcirculation. Olfactory cerebral resistance arteries were functionally assessed by pressure myography in vitro; these functional assessments were related to polymerase chain reaction/Western blot data, brain histology (Fluoro-Jade/activated caspase-3), and neurobehavioral assessments (modified Garcia scores).

RESULTS: Cerebrovascular myogenic vasoconstriction is rhythmic, with a peak and trough at Zeitgeber times 23 and 11 (ZT23 and ZT11), respectively. Histological and neurobehavioral assessments demonstrate that higher injury levels occur when SAH is induced at ZT23, compared with ZT11. In sm-Bmal1 KO mice, myogenic reactivity is not rhythmic. Interestingly, myogenic tone is higher at ZT11 versus ZT23 in sm-Bmal1 KO mice; accordingly, SAH-induced injury in sm-Bmal1 KO mice is more severe when SAH is induced at ZT11 compared to ZT23. We examined several myogenic signaling components and found that CFTR (cystic fibrosis transmembrane conductance regulator) expression is rhythmic in cerebral arteries. Pharmacologically stabilizing CFTR expression in vivo (3 mg/kg lumacaftor for 2 days) eliminates the rhythmicity in myogenic reactivity and abolishes the circadian variation in SAH-induced neurological injury.

CONCLUSIONS: Cerebrovascular myogenic reactivity is rhythmic. The level of myogenic tone at the time of SAH ictus is a key factor influencing the extent of injury. Circadian oscillations in cerebrovascular CFTR expression appear to underlie the cerebrovascular myogenic reactivity rhythm.

PMID:34905942 | DOI:10.1161/STROKEAHA.121.036950

Phytother Res. 2021 Dec 14. doi: 10.1002/ptr.7350. Online ahead of print.

ABSTRACT

This systematic review was designed to determine the clinical efficacy and safety of curcumin supplementation for pediatric patients based on clinical trials in children. We systematically searched electronic databases including PubMed, EMBASE, Web of Science, and Scopus for all studies that investigated curcumin administration in the pediatric population without any time frame limitation. Finally, we identified 16 studies for this review. Clinical efficacy and safety of curcumin were assessed in children with inflammatory and immune disorders (including asthma, inflammatory bowel disease (IBD), and juvenile idiopathic arthritis (JIA)), metabolic disorders, autosomal dominant polycystic kidney disease (ADPKD), cystic fibrosis (CF), tetralogy of Fallot (TOF), and infectious diseases. Curcumin was administered in a wide range of doses (45 mg-4,000 mg daily) and durations (2-48 weeks). Overall, curcumin was well tolerated in all studies and improved the severity of inflammatory and immune disorders and metabolic diseases. However, more studies are needed to clarify the role of curcumin supplementation among children with ADPKD, CF, TOF, and infectious diseases. Because of substantial heterogeneity in methodological quality, design, outcomes, dose, duration of intake, formulations, and study populations across studies, no quantitative analysis was performed. Additional large-scale, randomized, placebo-controlled clinical trials are needed to confirm the results of the conducted studies.

PMID:34904764 | DOI:10.1002/ptr.7350

Rev Alerg Mex. 2021 Oct-Dec;68(4):300-303. doi: 10.29262/ram.v68i4.974.

ABSTRACT

INTRODUCTION: Food protein-induced enterocolitis is a non-immunoglobulin E-mediated food allergy with acute manifestations like recurrent vomiting, dehydration, and shock. It is a rare pathology that requires a high index of suspicion. Pseudo-Bartter syndrome (metabolic alkalosis, hypokalemia and hypochloremia in the absence of tubulopathy) is an infrequent complication of cystic fibrosis.

CASE REPORT: A 5-month-old boy with recurrent vomiting, dehydration, and shock; who had been breastfed and had consumed baby formula three hours prior to the onset of symptoms. Laboratory tests confirmed hyponatremia, hypochloremic metabolic alkalosis, and hypokalemia in absence of tubulopathy; two iontophoresis showed altered results, stool elastase was decreased, and genetic sequencing confirmed the diagnosis of cystic fibrosis. The provocation test confirmed food protein-induced enterocolitis syndrome.

CONCLUSION: Recurrent vomiting and dehydration after the intake of milk formula must lead to suspicion of food protein-induced enterocolitis syndrome. If pseudo-Bartter syndrome is found, cystic fibrosis must be ruled out.

PMID:34904565 | DOI:10.29262/ram.v68i4.974

World J Hepatol. 2021 Nov 27;13(11):1727-1742. doi: 10.4254/wjh.v13.i11.1727.

ABSTRACT

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CF transmembrane conductance regulator gene. CF liver disease develops in 5%-10% of patients with CF and is the third leading cause of death among patients with CF after pulmonary disease or lung transplant complications. We review the pathogenesis, clinical presentations, complications, diagnostic evaluation, effect of medical therapies especially CF transmembrane conductance regulator modulators and liver transplantation in CF associated liver disease.

PMID:34904041 | PMC:PMC8637674 | DOI:10.4254/wjh.v13.i11.1727