Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2

We describe the first case of human male infertility caused by germ cell arrest in a man with AOA2. Our patient has a homozygous mutation in the SETX gene (NC_000009.11:g.135158775dup), which results in a frameshift and premature protein termination (NM_015046.6:c.6422dup, p.[Ser2142Glufs*23]). In accordance with the murine phenotype, testis histology revealed disrupted seminiferous tubules with spermatogonia and primary spermatocytes, but absent spermatids. Collectively, these data support an essential role of senataxin in human spermatogenesis, and provide a compelling case that men with AOA2 should be counselled at diagnosis about the possibility of infertility.
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research

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Publication date: Available online 2 June 2020Source: Life SciencesAuthor(s): Xiaofang Fan, Xiaoqiong Shan, Shan Jiang, Sixian Wang, Fukun Zhang, Qiuyun Tian, Danyang Chen, Jianshe Ma, Feng Xue, Sunzhong Mao, Junming Fan, Yongyu Wang, Yongsheng Gong
Source: Life Sciences - Category: Biology Source Type: research
CONCLUSIONS: Testosterone deficiency in male individuals after TBI can be present after TBI or can develop during aging. Age-related decreases in testosterone production after TBI may act to amplify endocrine dysfunction after TBI. Ongoing clinical surveillance for testosterone deficiency associated with both TBI and aging may be reasonable. PMID: 32497444 [PubMed - as supplied by publisher]
Source: Brain Injury - Category: Neurology Tags: Brain Inj Source Type: research
We report a case of a 65-year old Caucasian man with a slow and painful recovery after arthroscopic shoulder surgery encompassing rotator cuff repair, biceps tenotomy and acromioplasty, with recurrence of impingement symptoms unresponsive to conservative therapy (physiotherapy and one sub- acromial injection). He developed a severe heterotopic ossification at the acromial insertion of the deltoid and in the coraco-acromial ligament. This was successfully treated by arthroscopic excision of the lesion and postoperative prophylactic therapy with nonsteroidal anti-inflammatory drugs. PMID: 32490788 [PubMed - in process]
Source: Acta Orthopaedica Belgica - Category: Orthopaedics Tags: Acta Orthop Belg Source Type: research
Condition:   Infertility, Female Intervention:   Behavioral: Mindfulness based psychological intervention Sponsor:   University Hospital, Geneva Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Conclusions: Paediatric oncology rehabilitation services exist in some regions in Canada. HCPs strongly support the need to develop clinical practice guidelines for paediatric oncology rehabilitation. PMID: 32494104 [PubMed]
Source: Physiotherapy Canada - Category: Physiotherapy Authors: Tags: Physiother Can Source Type: research
Publication date: Available online 5 June 2020Source: American Journal of Orthodontics and Dentofacial OrthopedicsAuthor(s): Tiancheng Li, Zeyuan Zhou, Han Wang, Chunxiao Lv, Cheng Zhang, Guiyu Tao, Xiaobing Li, Shujuan Zou, Peipei Duan
Source: American Journal of Orthodontics and Dentofacial Orthopedics - Category: Dentistry Source Type: research
CONCLUSIONS: it is very important to establish an early diagnosis for patients with Boerhaave's syndrome. Early ( 24 h) primary repair, even for those reinforced with vascular muscle flaps. Furthermore, repair reinforcement with different muscle flaps appears to render similar results for patients with delayed diagnosis. PMID: 32496118 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
Abstract PURPOSE: To evaluate the in vivo response of photobiomodulation therapy associated with norbixin-based poly(hydroxybutyrate) membrane (PHB) in tenotomized calcaneal tendon. METHODS: Thirty rats were randomly allocated to six groups (n=5 each): LED groups (L1, L2 and L3) and membrane + LED groups (ML1, ML2 and ML3). The right calcaneal tendons of all animals were sectioned transversely and were irradiated with LED daily, one hour after surgery every 24 hours, until the day of euthanasia. At the end of the experiments the tendons were removed for histological analysis. RESULTS: The histological an...
Source: Acta Cirurgica Brasileira - Category: Surgery Authors: Tags: Acta Cir Bras Source Type: research
Conclusion: This study will provide helpful reference for the efficacy and safety of AM for the treatment of patients with EDPN to the clinicians and further studies. Study registration number: INPLASY202040094.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Study Protocol Systematic Review Source Type: research
Nonobstructive azoospermia (NOA) is a severe form of male infertility. The molecular basis of NOA is still poorly understood. The aim of this study was to explore the associations between single nucleotide polymorphisms (SNPs) of the TATA-box binding protein associated factor 4b (TAF4B) gene and NOA. A total of 100 Han Chinese patients with NOA and 100 healthy men as controls were recruited. Targeted gene capture sequencing was performed. A total of 11 TAF4B SNPs were screened in the NOA and control subjects. Six synonymous and 4 nonsynonymous variants were detected. The c.11G>T (p.G4V) mutation was detected only in NOA...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
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