Medicine
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Genetic abnormalities could account for 10% to 15% of male infertility cases, so increasing attention is being paid to gene mutations in this context. DNAH1 gene polymorphisms are highly correlated with astheno-teratozoospermia, but limited information has been reported on pathogenic variations in DNAH1 in the Chinese population. We explored 4 novel variations of the DNAH1 gene in Chinese infertile patients. ⋯ The other 4 novel variations (g.52418050del, g.52404762T>G, g.52430536del, g.52412620del) were all predicted to be pathogenic by in silico analysis. The variations g.52418050del and g.52430999_52431000del were detected in 1 patient who was more severe than another patient with the variation g.52430999_52431000del. Physicians should be aware of genetic variants in male infertility patients and DNAH1 mutations should be considered in patients with asthenospermia or azoospermia.
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Case Reports
Utility of power Doppler ultrasonography for detecting forefoot bursae in early rheumatoid arthritis: A case report.
Power Doppler ultrasonography (PDUS) in musculoskeletal ultrasound (MSUS) is a sensitive and reliable method for the assessment of rheumatoid arthritis (RA). The association between ultrasound-detectable forefoot bursae and the development of RA has gained attention. However, a few studies have evaluated the utility of PDUS for examining forefoot bursae in early RA. We report the case of an RA patient who developed reduced foot mobility and had detectable intermetatarsal bursitis with remarkable power Doppler (PD) signals in MSUS at the onset of RA. ⋯ Her case suggests that PDUS is useful for the detection of forefoot bursitis, and the detection of forefoot bursitis by PDUS may provide the opportunity to make an early diagnosis of RA.
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Spontaneous esophageal rupture (Boerhaave syndrome) is a rare, though frequently fatal, event. It is generally caused by a sudden increase in pressure inside the esophagus. In some cases, full-thickness perforations of the esophagus may develop from previous lesions that initially involve only the esophageal mucosa (Mallory-Weiss syndrome) and which, following further triggering events, give rise to a transmural lesion. ⋯ This case shows that distal esophageal tears, rather than constituting a distinct entity, may be part of a spectrum of diseases and that a partial lesion of the esophageal wall caused by barogenic injury may evolve into a full-thickness rupture following further barotraumas.
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Primary aldosteronism due to aldosteronoma is the most common form of secondary hypertension, with an estimated prevalence of 4% of hypertensive patients in primary care and around 10% of referred patients. Diagnosis is a clinical challenge with simultaneous occurrence of primary ectopic meningioma in the adrenal gland. To our knowledge this is the first reported case of simultaneous occurrence of aldosteronomas and ectopic meningioma in the adrenal gland based on literatures. ⋯ The patient was diagnosed with PA due to APA and nonfunctional primary ectopic meningioma in the adrenal gland which is very rare and dealt with unilateral laparoscopic adrenalectomy.
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Case Reports
Effectiveness of acupuncture for recovery of flatulence after cesarean section: A case report.
Postoperative ileus with flatulence is a common symptom in patients who have undergone cesarean section, and it can lead to peritonitis and intestinal perforation. However, few previous reports described therapeutic effects of acupuncture in women with flatulence after cesarean delivery. We reported a case of 29-year-old woman with abdominal flatulence after cesarean section. ⋯ Acupuncture can be an effective alternative treatment in patients with flatulence after cesarean section.