Pan Afr Med J. 2021 Nov 17;40:164. doi: 10.11604/pamj.2021.40.164.30316. eCollection 2021.

ABSTRACT

Sacrococcygeal chordoma is a rare disease. It has been described in less than 3% of cases. We here report the case of a female patient with locally advanced sacrococcygeal chordoma treated at the Oujda Regional Oncology Center in Morocco. The treatment was based on exclusive radiotherapy; surgical resection couldn't be performed. At 2-year follow-up the tumor is clinically and radiologically stable and general condition of the patient is good.

PMID:34970406 | PMC:PMC8683457 | DOI:10.11604/pamj.2021.40.164.30316

Clin Case Rep. 2021 Dec 26;9(12):e05235. doi: 10.1002/ccr3.5235. eCollection 2021 Dec.

ABSTRACT

Cleidocranial dysplasia is a rare disease with an autosomal-dominant inheritance that mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and radiological signs of a case series comprising three sisters and the son of one of the sisters, all with suspected bone dysplasia.

PMID:34963811 | PMC:PMC8710844 | DOI:10.1002/ccr3.5235

Cancer Radiother. 2022 Feb-Apr;26(1-2):377-387. doi: 10.1016/j.canrad.2021.11.023. Epub 2021 Dec 24.

ABSTRACT

We present the update of the recommendations of the French society of radiation oncology on soft tissue sarcomas. Currently, the initial management of sarcomas is very important as it may impact on patients' quality of life, especially in limb soft tissue sarcomas, and on overall survival in trunk sarcomas. Radiotherapy has to be discussed within a multidisciplinary board meeting with results of biopsy, eventually reexamined by a dedicated sarcoma pathologist. The role of radiotherapy varies according to localization of soft tissue sarcoma. It is part of the standard treatment in grade 2 and 3 sarcomas of the extremities and superficial trunk>5cm. In case of R1 or R2 resection, reexcision should be discussed. In such cases, it may be delivered preoperatively (50Gy/25 fractions of 2Gy) or postoperatively. In retroperitoneal sarcomas, preoperative conformal radiotherapy with or without modulated intensity cannot be proposed systematically in daily practice. Concomitant chemoradiotherapy cannot be considered a standard treatment. Intensity-modulated radiotherapy has become widely available. Other soft tissue sarcoma sites such as trunk, head and neck and gynaecological soft tissue sarcomas will be addressed, as well as other techniques that may be used such as brachytherapy and proton therapy.

PMID:34961656 | DOI:10.1016/j.canrad.2021.11.023

Cancer Radiother. 2022 Feb-Apr;26(1-2):292-297. doi: 10.1016/j.canrad.2021.11.014. Epub 2021 Dec 23.

ABSTRACT

Primary vaginal cancers are rare tumours, for which external beam radiotherapy and brachytherapy are major treatment tools. Given the complexity of brachytherapy techniques, the treatment should be performed in specialised centres. We present the recommendations of the French society for radiation oncology on the indications and techniques for external beam radiotherapy and brachytherapy for primary vaginal cancer.

PMID:34955415 | DOI:10.1016/j.canrad.2021.11.014

Eur J Pain. 2021 Dec 27. doi: 10.1002/ejp.1900. Online ahead of print.

ABSTRACT

BACKGROUND: Complex regional pain syndrome (CRPS) is an orphan disease occurring as a complication after trauma. Due to its acute onset and the typical clinical presentation of the inflammatory and autonomous signs, it is an eye-catching chronic pain disease affecting also young and working people. In social media and the internet, high pain severity and unfavorable prognosis is often empathized.

METHODS: Here, we compared epidemiological, pain and lifestyle factors of 223 CPRS patients from the "ncRNAPain" cohort with 255 patients with chronic musculoskeletal pain (MSK). MSK patients were recruited at the beginning of a multimodal pain therapy program. We searched for factors predicting pain intensity.

RESULTS: Both chronic pain diseases affected women in middle age. Patients with MSK were more obese, drank more alcohol and were less educated (Pearson Chi-square Test or Mann-Whitney/U-Test). Both groups smoked more than healthy people in the OECD (Organization for Economic Cooperation and Development). Mann-Whitney/U-Test confirmed that CRPS patients did not have more severe pain and did not suffer more from pain-related disability than patients with MSK. CRPS patients also had less psychiatric comorbidities. Multiple linear regression analysis revealed that group assignment, depressive characteristics, body mass index, average alcohol consumption and smoking predicted higher pain ratings, while disease duration, anxiety symptoms or gender had no influence on pain intensity.

CONCLUSION: In summary our study supports a more optimistic view on pain in CRPS patients in comparison to MSK and identifies lifestyle factors which might contribute to the pathophysiology like smoking and drinking. Important next steps are the identification of CRPS patients at risk for chronification or - vice versa - with protective factors for pain resolution.

PMID:34958709 | DOI:10.1002/ejp.1900

Cancer Radiother. 2022 Feb-Apr;26(1-2):286-291. doi: 10.1016/j.canrad.2021.08.014. Epub 2021 Dec 23.

ABSTRACT

Primary vulvar carcinomas are rare gynaecological cancers, for which surgery is the mainstay of treatment. There is however a major place for external beam radiotherapy in the situation of inoperable locally advanced tumours and/or as adjuvant therapy, when there are risk factors for locoregional relapse. We present the recommendations of the French society for radiation oncology on the indications and techniques for radiotherapy in the treatment of primary vulvar cancer.

PMID:34953710 | DOI:10.1016/j.canrad.2021.08.014

Cancer Radiother. 2022 Feb-Apr;26(1-2):168-173. doi: 10.1016/j.canrad.2021.08.009. Epub 2021 Dec 22.

ABSTRACT

Nasopharyngeal cancers are a rarity in France. Radiotherapy is the cornerstone of treatment, frequently combined with chemotherapy. The technical modality of radiotherapy is complex in this disease, which is located in the vicinity of numerous organs at risk. In this article, we will present the updated guidelines of the French society for radiation oncology (Société française de radiothérapie oncologique, SFRO) on the indications, and technical details of radiotherapy in nasopharyngeal cancers.

PMID:34953699 | DOI:10.1016/j.canrad.2021.08.009

BMC Pediatr. 2021 Dec 24;21(1):587. doi: 10.1186/s12887-021-03065-5.

ABSTRACT

BACKGROUND: While necrotizing enterocolitis (NEC) is a prevalent condition in preterm neonates admitted to neonatal intensive care unit (NICU), intussusception is exceedingly uncommon and often overlooked. This is due to the fact that they share many clinical characteristics. The initial misdiagnosis of intussusception in preterm neonates (IPN) especially has led to a delay in their management, which increases the risk of developing compromised bowel. Additionally, it is difficult to reach a diagnosis as neonatal intussusception does not have any classical radiological signs even when contrast enema is used. This systematic review is based on the published literature including case reports and case series to review the clinical features of IPN and how to differentiate it from NEC in order to shed the light on this rare disease and how having a high index of suspicion would help practitioners to make an early and accurate diagnosis METHODS: A systematic literature search to report all cases of relevant articles that reported IPN till date. All cases that were born before 37 weeks gestational age, presented within the neonatal period and having well established documentation were included in the study. Any case that did not have these criteria was excluded from our study.

RESULTS: Only 52 cases met these criteria during the period from 1963 till date. An average of 10 days had elapsed before the cases were confirmed to have IPN either clinically or intraoperatively. The most frequent manifestations were abdominal distension and bilious gastric residuals, occurring in 85% and 77% of the cases respectively, followed by bloody stools in 43% of cases. However, this triad was present only in approximately one-third of the cases. Only 13 cases were diagnosed as having intussusception preoperatively. About two thirds of the intussusception were located in the ileum. Pathological lead point was present in 7 cases only; 4 of them were due to Meckel's diverticulum. Nine cases only out of the 52 cases with IPN died.

CONCLUSION: It is crucial to detect the clues for diagnosis of intussusception because in contrast to NEC, it is unresponsive to conservative management, affects the viability of the bowel and surgery is essential.

PMID:34952564 | PMC:PMC8709945 | DOI:10.1186/s12887-021-03065-5

J Vasc Surg. 2022 Jan;75(1):1-2. doi: 10.1016/j.jvs.2021.07.229. Epub 2021 Nov 10.

NO ABSTRACT

PMID:34949378 | DOI:10.1016/j.jvs.2021.07.229

Cells. 2021 Nov 24;10(12):3290. doi: 10.3390/cells10123290.

ABSTRACT

One of the major obstacles to the identification of therapeutic interventions for central nervous system disorders has been the difficulty in studying the step-by-step progression of diseases in neuronal networks that are amenable to drug screening. Recent advances in the field of human pluripotent stem cell (PSC) biology offers the capability to create patient-specific human neurons with defined clinical profiles using reprogramming technology, which provides unprecedented opportunities for both the investigation of pathogenic mechanisms of brain disorders and the discovery of novel therapeutic strategies via drug screening. Many examples not only of the creation of human pluripotent stem cells as models of monogenic neurological disorders, but also of more challenging cases of complex multifactorial disorders now exist. Here, we review the state-of-the art brain cell types obtainable from PSCs and amenable to compound-screening formats. We then provide examples illustrating how these models contribute to the definition of new molecular or functional targets for drug discovery and to the design of novel pharmacological approaches for rare genetic disorders, as well as frequent neurodegenerative diseases and psychiatric disorders.

PMID:34943799 | PMC:PMC8699352 | DOI:10.3390/cells10123290

Int J Mol Sci. 2021 Dec 12;22(24):13356. doi: 10.3390/ijms222413356.

ABSTRACT

Rare genetic diseases are a group of pathologies with often unmet clinical needs. Even if rare by a single genetic disease (from 1/2000 to 1/more than 1,000,000), the total number of patients concerned account for approximatively 400 million peoples worldwide. Finding treatments remains challenging due to the complexity of these diseases, the small number of patients and the challenge in conducting clinical trials. Therefore, innovative preclinical research strategies are required. The zebrafish has emerged as a powerful animal model for investigating rare diseases. Zebrafish combines conserved vertebrate characteristics with high rate of breeding, limited housing requirements and low costs. More than 84% of human genes responsible for diseases present an orthologue, suggesting that the majority of genetic diseases could be modelized in zebrafish. In this review, we emphasize the unique advantages of zebrafish models over other in vivo models, particularly underlining the high throughput phenotypic capacity for therapeutic screening. We briefly introduce how the generation of zebrafish transgenic lines by gene-modulating technologies can be used to model rare genetic diseases. Then, we describe how zebrafish could be phenotyped using state-of-the-art technologies. Two prototypic examples of rare diseases illustrate how zebrafish models could play a critical role in deciphering the underlying mechanisms of rare genetic diseases and their use to identify innovative therapeutic solutions.

PMID:34948153 | PMC:PMC8706563 | DOI:10.3390/ijms222413356

J Pers Med. 2021 Dec 2;11(12):1277. doi: 10.3390/jpm11121277.

ABSTRACT

SLC25A46 (solute carrier family 25 member 46) mutations have been linked to various neurological diseases with recessive inheritance, including Leigh syndrome, optic atrophy, and lethal congenital pontocerebellar hypoplasia. SLC25A46 is expressed in the outer membrane of mitochondria, where it plays a critical role in mitochondrial dynamics. A deceased 7-month-old female infant was suspected to have Leigh syndrome. Clinical exome sequencing was non-diagnostic, but research reanalysis of the sequencing data identified two novel variants in SLC25A46: a missense (c.1039C>T, p.Arg347Cys; NM_138773, hg19) and a donor splice region variant (c.283+5G>A) in intron 1. Both variants were predicted to be damaging. Sanger sequencing of cDNA detected a single missense allele in the patient compared to control, and the SLC25A46 transcript levels were also reduced due to the splice region variant. Additionally, Western blot analysis of whole-cell lysate showed a decrease of SLC25A46 expression in proband fibroblasts, relative to control cells. Further, analysis of mitochondrial morphology revealed evidence of increased fragmentation of the mitochondrial network in proband fibroblasts, compared to control cells. Collectively, our findings suggest that these novel variants in SLC24A46, the donor splice one and the missense variant, are the cause of the neurological phenotype in this proband.

PMID:34945750 | DOI:10.3390/jpm11121277

Eur Respir Rev. 2021 Dec 22;30(162):210258. doi: 10.1183/16000617.0258-2021. Print 2021 Dec 31.

NO ABSTRACT

PMID:34937707 | DOI:10.1183/16000617.0258-2021

Medicine (Baltimore). 2021 Dec 23;100(51):e28416. doi: 10.1097/MD.0000000000028416.

ABSTRACT

RATIONALE: Bronchial artery aneurysm (BAA) is a rare disease that can be life-threatening if it ruptures. Tandem connections of multiple aneurysms are even rarer and more challenging to manage.

PATIENT CONCERNS: A 46-year-old woman presented to the hospital with intermittent hemoptysis for a week. A bronchial artery computed tomographic angiography scan revealed 2 BAAs associated with bronchial artery-to-pulmonary artery fistulas in the left lung. Three-dimensional CT reconstruction showed 2 bronchial aneurysms in tandem and 1 aneurysm adjacent to the descending aorta.

DIAGNOSES: Giant tandem bronchial aneurysms were confirmed using computerized tomographic angiography.

INTERVENTIONS: Nine interlocking detachable coils and 11 standard pushable coils were introduced into aneurysms for embolization.

OUTCOMES: There was no episodes of hemoptysis. CT angiography indicated that the coils were closely knit and in their proper position 1 month later; at follow-up, the patient had no adverse effects and no recurrence of hemoptysis.

LESSONS: BAA is a rare disease that can be life-threatening if it ruptures. It should be treated aggressively to determine the presence of symptoms.

PMID:34941187 | PMC:PMC8702262 | DOI:10.1097/MD.0000000000028416

Hum Gene Ther. 2021 Dec;32(23-24):1420-1422. doi: 10.1089/hum.2021.29188.bfs.

NO ABSTRACT

PMID:34935451 | DOI:10.1089/hum.2021.29188.bfs

N Engl J Med. 2021 Dec 23;385(26):2478-2484. doi: 10.1056/NEJMms2111017.

NO ABSTRACT

PMID:34936744 | DOI:10.1056/NEJMms2111017

Br J Radiol. 2022 Feb 1;95(1130):20210687. doi: 10.1259/bjr.20210687. Epub 2021 Dec 20.

ABSTRACT

Brenner tumors are rare ovarian neoplasms composed of ovarian transition cells surrounded by dense fibrous tissue. Most of them are small tumors (<2 cm), detected incidentally in asymptomatic women. Its predominantly fibrous content results in relatively low signal on T2 weighted images, establishing differential diagnosis with ovarian fibroma and thecoma. Their imaging features are very similar, the differentiation is based on secondary characteristics, such as signs or symptoms of estrogen excess and the presence of a second ovarian neoplasm, which has been reported in up to 30% of patients with Brenner tumor. Although originally thought to be universally benign, there have been scattered reports in the past decades of borderline and malignant forms of Brenner tumors.

PMID:34928171 | DOI:10.1259/bjr.20210687

Ther Adv Med Oncol. 2021 Dec 10;13:17588359211061956. doi: 10.1177/17588359211061956. eCollection 2021.

ABSTRACT

Due to occupational asbestosis exposure, the incidence of malignant pleural mesothelioma (MPM) has continuously increased over the last 30 years, with a plateau anticipated around the year 2030 in Western countries. Molecular MPM carcinogenesis involves alterations of NF2, RASSF1, LATS2WT1, p16, as well as BAP-1tumor-suppressor genes, which usually regulate apoptosis, cell invasion, motility, cell division, chromatin remodeling, as well as control of DNA repair. In few selected patients, debulking surgery consisting of pleurectomy-decortication is carried out, resulting in unsatisfactory long-term results. For about 15 years, first-line chemotherapy has been primarily based on a doublet of pemetrexed and cisplatin. Adding the monoclonal antibody bevacizumab (Avastin®), which targets vascular endothelial growth factor (VEGF), has been shown to improve overall survival (OS) by nearly 19 months. The emergence of immune check-point inhibitors (ICIs) in MPM treatment has recently been associated with substantial survival improvements in both second- and first-line settings. Similarly to non-small-cell lung cancer (NSCLC) patients, on-going trials are presently exploring the chemotherapy-ICI combination in MPM management, and depending on their results, this combination could represent a further major advance in this previously orphan disease. The current article reviews recent clinical trial results, as well as future clinical developments in this moving field.

PMID:34917175 | PMC:PMC8669877 | DOI:10.1177/17588359211061956

Zhongguo Dang Dai Er Ke Za Zhi. 2021 Dec 15;23(12):1276-1281. doi: 10.7499/j.issn.1008-8830.2109042.

ABSTRACT

A boy, aged 1 year and 6 months, was found to have persistent positive urine glucose at the age of 4 months, with polydipsia, polyuria, and growth retardation. Laboratory examinations suggested that the boy had low specific weight urine, anemia, hypokalemia, hyponatremia, hypomagnesemia, metabolic acidosis, glycosuria, acidaminuria, increased fractional excretion of potassium, and decreased tubular reabsorption of phosphate. X-ray examinations of the head, thorax, and right hand showed changes of renal rickets. The slit-lamp examination showed a large number of cystine crystals in the cornea. The genetic testing showed a suspected pathogenic homozygous mutation of the CTNS gene, C.922g>A(p.Gly308Arg). The boy was finally diagnosed with cystinosis. At the beginning of treatment, symptomatic supportive treatment was given to maintain the stability of the internal environment, and cysteamine tartaric acid capsules were used after diagnosis to remove cysteine. This article reported a case of cystinosis caused by CTNS gene mutation and summarized the etiology, clinical features, diagnosis, and treatment of this disease, which can provide a reference for the early diagnosis, treatment, and subsequent study of the disease.

PMID:34911613 | DOI:10.7499/j.issn.1008-8830.2109042

Sci Rep. 2021 Dec 13;11(1):23837. doi: 10.1038/s41598-021-03379-5.

ABSTRACT

The measurement of costs is fundamental in healthcare decision-making, but it is often challenging. In particular, standardised methods have not been developed in the rare genetic disease population. A reliable and valid tool is critical for research to be locally meaningful yet internationally comparable. Herein, we sought to develop, contextualise, translate, and validate the Client Service Receipt Inventory for the RAre disease population (CSRI-Ra) to be used in cost-of-illness studies and economic evaluations for healthcare planning. Through expert panel discussions and focus group meetings involving 17 rare disease patients, carers, and healthcare and social care professionals from Hong Kong, we have developed the CSRI-Ra. Rounds of forward and backward translations were performed by bilingual researchers, and face validity and semantic equivalence were achieved through interviews and telephone communications with focus group participants and an additional of 13 healthcare professional and university students. Intra-class correlation coefficient (ICC) was used to assess criterion validity between CSRI-Ra and electronic patient record in a sample of 94 rare disease patients and carers, with overall ICC being 0.69 (95% CI 0.56-0.78), indicating moderate to good agreement. Following rounds of revision in the development, contextualisation, translation, and validation stages, the CSRI-Ra is ready for use in empirical research. The CSRI-Ra provides a sufficiently standardised yet adaptable method for collecting socio-economic data related to rare genetic diseases. This is important for near-term and long-term monitoring of the resource consequences of rare diseases, and it provides a tool for use in economic evaluations in the future, thereby helping to inform planning for efficient and effective healthcare. Adaptation of the CSRI-Ra to other populations would facilitate international research.

PMID:34903789 | PMC:PMC8668911 | DOI:10.1038/s41598-021-03379-5