Myogenesis within the human gubernaculum: histological and immunohistochemical evaluation.

BACKGROUND: The presence of varying amounts of smooth muscle (SM) in the patent processus vaginalis suggests that SM plays a role in the descent of the testis. Myogenesis within the gubernaculum (representing primitive mesenchymal tissue) has been evaluated. MATERIALS AND METHODS: Bilateral gubernacula of ten male and five female fetuses were obtained. Sections were stained with hematoxylin-eosin, van Gieson and Gomori trichrome. Expressions of human muscle actin, desmin, vimentin, alpha-smooth muscle actin, human myosin, fast myosin, slow myosin, and Myo-D were determined through immunohistochemistry. The structural alterations and expressions according to the fetal ages were determined within the gubernacula of both sexes. RESULTS: Gubernacula revealed striated muscle at twelve weeks of age. Despite expression of actin and desmin, those muscles did not express Myo-D. Actin and desmin expressing striated muscles ceased to exist until 22 weeks of age. Both vascular SM and cremaster muscle (CM) expressed Myo-D during the 22nd and 23rd weeks. CM additionally expressed alpha-smooth muscle actin. Detection of myofibroblasts in the 22nd week was followed by appearance of the SM in the 27th week in the gubernacula of male fetuses. The same alterations were encountered among the female fetuses at later time points. CONCLUSION: Both smooth muscle and CM develop within the gubernaculum. CM may have transdifferentiated from the vascular SM. If the gubernaculum represents primitive mesenchymal tissue, it ceases to exist after the development of muscles.     

Cooperative slit and netrin signaling in contralateralization of the mouse trigeminothalamic pathway

Ascending somatosensory pathways are crossed pathways representing each side of the body in the contralateral neocortex. The principal sensory nucleus of the trigeminal nerve (PrV) relays the facial sensations to the contralateral somatosensory cortex via the ventrobasal thalamus. In the companion article (Kivrak and Erzurumlu [ 2012 ] J. Comp. Neurol. 12–0013) we described the normal development of the trigeminal lemniscal pathway in the mouse. In this study we investigated the role of midline axon navigation signals, the netrin and slit proteins. In situ hybridization assays revealed that both netrin and slit mRNAs are expressed along the midline facing the PrV axons and their receptors are expressed in developing PrV neurons. In wild‐type mouse embryos, PrV axons cross the midline and take a sharp rostral turn heading toward the contralateral thalamus. Examination of trigeminal lemniscal axons in dcc knockout mice revealed absence of midline crossing between E11 and E15. However, a few axons crossed the midline at E17 and reached the contralateral thalamus, resulting in a bilateral PrV lemniscal pathway at P0. We also found that slit1, ‐2 or ‐3 single or double knockout mice have impaired development of the trigeminal–lemniscal pathway. These include axon stalling along the midline, running within the midline, and recrossing of axons back to the site of origin. Collectively, our studies indicate a cooperative role for netrin and slit proteins in midline attraction and crossing behavior of the ascending facial somatosensory projections during development. J. Comp. Neurol. 521:312–325, 2013. © 2012 Wiley Periodicals, Inc.     

Coexistence of two distinct intragenic dystrophin deletions in two maternal cousins with Duchenne Muscular Dystrophy

The identification of two independent mutations is rarely described between affected members of the same family with Duchenne Muscular Dystrophy. This study reports the presence of two distinct intragenic dystrophin deletions in a Turkish family. Exon 54 deletion was identified originally in the proband, whereas his maternal cousin had deletions of exons 43–50 in the dystrophin gene. As indicated, only the mother of the proband was identified as exon 54 deletion carrier however, the proband’s cousin was detected as a sporadic case. These molecular genetic data reveal an interesting and novel mixture, in the same family, of both mutations of the same gene.     

Acromegaly is associated with decreased skin transepidermal water loss and temperature, and increased skin pH and sebum secretion partially reversible after treatment

BackgroundAcromegaly is characterized by an acquired progressive somatic disfigurement, mainly involving the face and extremities, besides many other organ involvement. Wet and oily skin was described in acromegaly patients and it was attributed to hyperhidrosis and increased sebum production but this suggestion has not been evaluated with reliable methods.ObjectiveThe aim of this study was to examine the skin parameters of patients with acromegaly using measurements of skin hydration, sebum content, transepidermal water loss, pH and temperature and particularly the effects of 12 months of treatment on these parameters.Methods52 patients with acromegaly and 24 healthy control subjects were included in this two blinded prospective study. Skin properties were measured on forehead and forearm by Corneometer CM825, Sebumeter SM810, Tewameter TM210 and Phmeter PH900 as non-invasive reliable measuring methods. Serum GH, IGF-1 and all measurements of skin properties on forehead and forearm were repeated at the end of the 3, and 6 months of therapy in 20 cases. Patients were treated with appropriate replacement therapy for deficient pituitary hormones.ResultsThe sebum content and pH of the skin of acromegalic patients were significantly higher and transepidermal water loss and skin temperature were found to be significantly lower in acromegalic patients when compared to the control group both on forehead and forearm. GH and IGF-1 levels were positively correlated with sebum levels and negatively correlated with skin temperature on both forehead and forearm. The sebum levels of the patients were significantly decreased both on forehead and forearm at 3rd and 6th months of treatment.ConclusionThe present study demonstrated increased sebum secretion, decreased transepidermal water loss, alkali and hypothermic skin surface in patients with acromegaly by reliable methods for the first time. These data suggest that GH and/or IGF-I may have a modulatory role on several skin characteristics which can be at least partially reversible with treatment.     

Arrhythmogenic right ventricular dysplasia presenting with severe right heart failure leading to abdominal ascites in a child

This report describes a 12-year-old girl with arrhythmogenic right ventricular dysplasia, presenting with severe right ventricular failure symptoms including fatigue, abdominal pain and distension due to abdominal ascites.     

Adherence, depression and quality of life in patients on a renal transplantation waiting list

To study nonadherence, and its relationship with depression and quality of life (QOL) in patients on a cadaveric renal transplantation waiting list (RTWL). In 86 RTWL patients (56 men/30 women), there were 49 nonadherent patients (age, 46.8 +/- 21.8 years) and 37 adherent patients (age, 42.8 +/- 12.1 years). Clinical nonadherence was defined as skipping or shortening dialysis sessions, interdialytic weight gain (IDWG) of >5.7% body weight, a predialysis potassium level of >6 mEq/l and a predialysis phosphate level of >7.5 mg/dl. For each study subject, marital status, level of education duration of dialysis, prior renal transplantation, IDWG, predialysis blood urea nitrogen (BUN) value and creatinine, potassium, phosphate levels were recorded as were scores from the short form-36 and Beck depression inventory (BDI). A high IDWG (33.7% of the subjects) was the most common nonadherence pattern noted. Age, sex, marital status, duration of dialysis, prior transplantation, comorbid conditions the predialysis BUN values, the levels of creatinine, potassium, and phosphate were not significantly different between the two groups (P > 0.05). The level of education was higher in adherent group (P = 0.018). QOL and BDI scores were negatively correlated (P = 0.001, r = -0.561). Nonadherent patients had lower QOL (P = 0.04) and higher depression scores (P = 0.01) than did adherent patients. Of the depressed patients, 77.8% had a comorbid condition. Nonadherence was only associated with BDI scores (OR, 2.146; CI, 2.052-2.350; P = 0.002). In dialysis patients, close monitoring of adherence, early diagnosis of depression, and the treatment of disease may further enhance QOL during the waiting period for a cadaveric renal transplant.     

Is hand bone mineral density a marker for hand function in patients with established rheumatoid arthritis? The correlation among bone mineral density of the hand, radiological findings and hand function

The objective of this study is to assess the role of hand bone mineral density (BMD) as a prospective marker for hand function and the correlation of hand BMD with X-ray findings and hand functioning in patients with established rheumatoid arthritis (RA). Eighty-three female patients diagnosed with RA were enrolled. All BMD measurements were performed on both hands. The radiological evaluation was conducted according to the van der Heijde modification of the Sharp method (Sharp/van der Heijde). Duruöz Hand Index (DHI) was used to establish the disability in the hands. Furthermore, handgrip strength (HGS), pinch strength (PS), lateral pinch (LP), tip-to-tip pinch (TTP) and three-fingered pinch (TFP) on both the dominant and the non-dominant hands was measured. A significant positive correlation between hand BMD and HGS as well as all PSs with p?<?0.05 was observed, while no statistically significant relation was observed between BMD and DHI (p?>?0.05). The hand BMD and the Sharp/van der Heijde scores were significantly in reverse correlation (p?<?0.05). As for other DHI-related variants, HGS and PS and the total DHI scores were reversely correlated, while there was a positive significant association with radiological scores (p?<?0.05). HGS and TTP were found significant (p?<?0.05) as a result of a multivariant linear stepwise regression analysis among the sub-groups of DHI, HGS, LP, TTP, TFP and radiographic total scores. Our study demonstrated that a one-off hand BMD measurement failed to adequately indicate a loss in hand function as measured by DHI. Ultimately, HGS and TTP were shown to be the most effective indicators for measuring hand functions.     

Anterior segment optical coherence tomography measurement of anterior chamber depth and angle changes after phacoemulsification and intraocular lens implantation

PURPOSE: To use anterior segment optical coherence tomography (AS-OCT) to evaluate anterior chamber depth (ACD) and angle after phacoemulsification and intraocular lens (IOL) implantation. SETTING: Department of Ophthalmology, Yeditepe University, Istanbul, Turkey. METHODS: Forty-seven eyes (37 patients) had uneventful phacoemulsification and IOL implantation through a clear corneal incision. Anterior segment OCT was performed preoperatively and 1 week and 1 month postoperatively. The angle-referenced (ACD(1)), pupil-referenced (ACD(2)), and lens-referenced (ACD(3)) ACDs, crystalline lens rise (CLR), pseudophakic posterior chamber depth (PPCD), and nasal and temporal iridocorneal angles were measured. Statistical analysis was by a 1-way analysis of variance and Pearson correlation analysis. RESULTS: The mean age of patients was 70 years+/-10.17 (SD). The mean ACD(1) (mean increase) was 3.06+/-0.25 mm preoperatively, 3.16+/-0.22 mm at 1 week (0.1 mm), and 3.16+/-0.19 mm at 1 month (0.1 mm); the mean ACD(2), 2.76+/-0.47 mm preoperatively, 3.62+/-0.24 mm at 1 week (0.86 mm), and 3.63+/-0.20 mm (0.87 mm) at 1 month; and the mean ACD(3), 2.54+/-0.46 mm preoperatively, 3.97+/-0.28 mm at 1 week (1.43 mm), and 3.91+/-0.25 mm at 1 month (1.37 mm). The mean CLR was 0.497+/-0.363 mm and the mean PPCD, 0.322+/-0.150 mm. The increase in nasal and temporal iridocorneal angles was statistically significant at both postoperative examinations (P<.01). CONCLUSION: Deepening of the anterior chamber and widening of the nasal and temporal angles after cataract extraction was shown on AS-OCT.