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Abstract Background Hybrids are expected to show greater phenotypic variation than their parental species, yet how hybrid phenotype expression varies with genetic distances in closely-related parental species remains surprisingly understudied. Here, we investigate pelage and morphometric trait variation in anthropogenic hybrids between four species of Brazilian Callithrix marmosets, a relatively recent primate radiation. Marmoset species are distinguishable by pelage phenotype and morphological specializations for eating tree exudates. In this work, we (1) describe qualitative phenotypic pelage differences between parental species and hybrids; (2) test whether significant quantitative differences exist between parental and hybrid morphometric phenotypes; and (3) determine which hybrid morphometic traits show heterosis, dysgenesis, trangression, or intermediacy relative to the parental trait. We investigated cranial and post-cranial morphometric traits, as most hybrid morphological studies focus on the former instead of the latter. Finally, we estimate mitogenomic distances between marmoset species from previously published data. Results Marmoset hybrid facial and overall body pelage variation reflected novel combinations of coloration and patterns present in parental species. In morphometric traits, C. jacchus and C. penicillata were the most similar, while C. aurita was the most distinct, and C. geoffroyi trait measures fell between these species. Only three traits in C. jacchus x C. penicillata hybrids showed heterosis. We observed heterosis and dysgenesis in several traits of C. penicillata x C. geoffroyi hybrids. Transgressive segregation was observed in hybrids of C. aurita and the other species. These hybrids were also C. aurita-like for a number of traits, including body length. Genetic distance was closest between C. jacchus and C. penicillata and farthest between C. aurita and the other species. Conclusion We attributed significant morphometric differences between marmoset species to variable levels of morphological specialization for exudivory in these species. Our results suggest that intermediate or parental species-like hybrid traits relative to the parental trait values are more likely in crosses between species with relatively lesser genetic distance. More extreme phenotypic variation is more likely in parental species with greater genetic distance, with transgressive traits appearing in hybrids of the most genetically distant parental species. We further suggest that fewer developmental disturbances can be expected in hybrids of more recently diverged parental species, and that future studies of hybrid phenotypic variation should investigate selective pressures on Callithrix cranial and post-cranial morphological traits.

The aim of this study is to present the cases of patients who visited the psychiatric department because of their disorderly behavior related to a psychotic episode. Before admission, the patient underwent thorough examination and investigations to rule out acute organic causes of altered mental status, and a radiological examination of the brain revealed abnormalities of the corpus callosum. The commissural pathway, the corpus callosum which connects the two hemispheres of the brain, is either partially or completely absent in patients which is a rare congenital condition. It plays a role in the brain's motor, sensory, and cognitive functions. With regard to the prevalence of undetected abnormalities of corpus callosum and potential underlying genetic contributions in patients with severe mental illness, this case series offers an interesting incidental anatomical finding in patients with psychotic symptoms.

Abstract Background Persistent urogenital sinus is a rare cloacal anomaly in which the urinary and genital tracts cannot be differentiated during embryonic development. However, the presence of concomitant recto-urogenital sinus or recto-vaginal fistula is much rarer. In the literature, only two cases with accompanying fistula have been presented so far. Case presentation We present the diagnosis and treatment management of a persistent urogenital sinus case with recto-vaginal fistula. We also aimed to reveal the difference between our patient, who is the 3rd case in the literature, and the other two and the described cloacal anomalies. By performing total urogenital sinus mobilization and fistula repair, the three systems were separated from each other, and both a functional and cosmetic appearance was obtained. Conclusion It should be kept in mind that there may be different variants other than the defined cloacal malformations. In patients with cloacal malformation, cystoscopy and rectoscopy should be performed to reveal the anatomy before reconstructive surgery in order to avoid any unexpected situation.

Abstract Background Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to evaluate the incidence and etiological classification of CH in Apulia in a three-year period according to the reorganization of the regional screening program in a single central laboratory, as well as to analyze the growth characteristics and the associated risk factors of the CH newborns diagnosed during the study period. Methods Data derived from the reorganization of the newborn screening program for CH in a single central laboratory that collects dried blood spot (DBS) from 27 Maternity Hospitals are analyzed over a three-year period. Birth weight and length, daily dose of L-T4 at specific key points (3, 6, 12 and 18 months, 2, 2.5 and 3 years) were also obtained from medical records of the CH newborns during the study period and calculated as standard deviation score (SDS). Results The screening program diagnosed 90 newborns with confirmed CH (incidence 1:990; recall rate: 3.6%). In detail, 75.6% newborns had an eutopic thyroid, and 24.4% had thyroid dysgenesis; 33 out of the 90 newborns (36.6%) had one or more risk factors. Among these, the multiple pregnancies are the most important because they tripled the risk of CH. At diagnosis, TSH levels were different between patients with dysgenesis and those with an eutopic thyroid (p = 0.005). Treatment was started at a mean of 18.5 ± 12.8 days of life. The mean starting dose of levothyroxine (L-T4) was 11.38 ± 2.46 μg/kg/day. Conclusions The results of these study show an increase of CH cases in newborns with an eutopic thyroid compared to the traditional classification. The centralization of the screening program allows a closer cooperation between laboratory and clinical centers and facilitates the implementation of appropriate diagnostic evaluations and timely initiation of treatment, with positive effects on the management of the condition.

Abstract Background Unilateral retinal pigment epithelium dysgenesis (URPED) is a rare condition and is characterized by a unilateral and solitary lesion in the peripapillary region. The lesion presents with central atrophy, peripheral fibrosis, and hyperplastic changes in the retinal pigment epithelium (RPE). Herein, we report the first case of URPED in a Chinese individual using multimodal imaging techniques such as en-face optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). Case presentation A 10-year-old girl presented with 20/40 vision in her left eye. Presented as a solitary, unilateral, large and yellowish-white lesion, with fringe-like margins was observed in the posterior pole and lower middle periphery of the left eye continuous with the optic nerve, indicated URPED. Infrared fundal (IR) images showed that the fringe-like contour of the lesion was visible, with diffuse hyperreflective signals specifically in the fovea, while with peripheral dark spots, having a typical leopard-spot like appearance. Fundus autofluorescence (FAF) revealed a markedly scalloped lesion containing a hypoautofluorescence area mixed with an isoautofluorescence area. Spectral-domain optical coherence tomography (SD-OCT) revealed the outer segments of photoreceptors presented with an inhomogeneous signal in the fovea, with a weak local signal. The ellipsoid and interdigitation zones were thinner than normal, while the RPE/Bruch’s complex was not flat, with locally visible protrusions. En-face OCT image at the level of the RPE zone showed a mottled hyperreflective signal with peripheral hyporeflective spots, fringe-like margin lesions. OCTA of the avascular area of the fovea in the superficial, deep, and outer retinal layers appeared to be oval in shape, the choroid capillary layer revealed an increase in the density of the choroidal vasculature in the fovea. Conclusions This is the first report on URPED in China. Both en-face OCT and OCTA were essential in observing and studying the disease. Further investigation is required to better define the en-face OCT and OCTA features of URPED and clarify the disease characteristics and prognosis.

The study was carried out with the aim of determining the occurrence of cryptorchidism in bulls slaughtered at the Sokoto metropolitan abattoir. Out of 575 bulls examined, 10 (1.74%) were cryptorchid. Nine (90.00%) of this were unilateral cryptorchidism while 1 (10.00%) was bilateral cryptorchidism. Sokoto Gudali breed had the highest 5 (50.00%) occurrence followed by Red Bororo breed 3 (30.00%) then crosses 2 (20.00%) while none (0.00%) was cryptorchid among Bunaji breed. Young bulls < 1 year old were mostly affected 6 (60.00%) while bulls 1 ≥ - < 2 years, 2 ≥ - < 3 years, 3 ≥ - < 4 years and > 5 years had 1 (10.00%) each. None (0.00%) was cryptorchid among bulls 4 ≥ - < 5 years. Subcutaneous testes 9 (90.00%) occurred more than abdominal testis 1 (10.00%) while left testicles 6 (66.67%) were more affected than the right 3 (33.33%) testicle. There were significant differences (p

We present the case of T.F., a 28 year-old woman diagnosed with corpus callosum dysgenesis and colpocephaly. The diagnosis is based on cerebral imaging – magnetic resonance imaging (MRI) and computerised tomography (CT)

Background: Considering the higher prevalence of congenital hypothyroidism (CH) in Iran and the importance of determination of the etiology of CH for assessing appropriate treatment strategies, understanding the pathogenesis of CH and the implications of its inheritance and prognosis, the aim of this study was to determine the etiology of CH 7 years after initiation of the program in Isfahan province. Materials and Methods: In this cross-sectional study, children with a primary diagnosis of CH studied. They clinically examined and their medical files were reviewed by a Pediatric Endocrinologist. Considering screening and follow-up lab data and radiologic findings the etiology of CH was determined. Screening properties of different etiologies of CH was compared. Results: In this study, 437 patients with permanent CH (PCH) were studied. Etiology of PCH in 316 (72.3%) and 121 (27.7%) of cases was thyroid dyshormonogenesis and thyroid dysgenesis, respectively. Prevalence of agenesis, ectopia, hypoplasia and hemiagenesis in thyroid dysgenetic patients was 13.3%, 6.4%, 4.3% and 3.7% respectively. Mean of thyroid stimulating hormone in screening, recall and after discontinuing treatment at 3 years of age was significantly lower in dyshormonogenetic CH patients than dysgenetic ones(P < 0.01). Conclusion: Seven years of our experiences in CH screening program indicated that the etiology of CH in Isfahan, with a higher rate of CH, with a predominance of thyroid dyshormonogenesis is different from most of the studies world-wide and similar to other reports from Iran. The findings of the current study provide us baseline information for determination of CH pathogenesis in this region.

Background: Despite elimination of iodine deficiency, the rates of both permanent and transient congenital hypothyroidism (CH) in our study were higher than the comparable worldwide rates, which emphasize the major role of genetic factors in the pathogenesis of CH and many studies in this regard confirm this possibility. Materials and Methods: In this review, we report all studies that established during CH screening program regarding familial and genetic component of the disease. Results: Although we could not entirely ignore the possible role of environmental and autoimmune factors in the development and function of thyroid gland, our findings strongly suggest the role of genetic factors as dominant etiologic factor in CH. Conclusion: The studies support the existence of a familial component of CH involving dominant genetic predisposition factors with a low penetrance. Considering the polygenic/multifactorial basis of CH, they suggest the possible involvement of other unknown genes in the pathogenesis of the disease, which may also follow non-Mendelian pattern of inheritance.