Search

Background The X chromosome has historically been one of the most thoroughly investigated chromosomes regarding intellectual disability (ID), whose etiology is attributed to many factors including copy number variations (CNVs). Duplications of the long arm of the X chromosome have been reported in patients with ID, short stature, facial anomalies, and in many cases hypoplastic genitalia and/or behavioral abnormalities. Methods Here, we report on a large Iranian family with X‐linked ID caused by a duplication on the X chromosome identified by whole genome sequencing in combination with linkage analysis. Results Seven affected males in different branches of the family presented with ID, short stature, seizures, facial anomalies, behavioral abnormalities (aggressiveness, self‐injury, anxiety, impaired social interactions, and shyness), speech impairment, and micropenis. The duplication of the region Xq13.2q13.3, which is ~1.8 Mb in size, includes seven protein‐coding OMIM genes. Three of these genes, namely SLC16A2, RLIM, and NEXMIF, if impaired, can lead to syndromes presenting with ID. Of note, this duplicated region was located within a linkage interval with a LOD score >3. Conclusion Our report indicates that CNVs should be considered in multi‐affected families where no candidate gene defect has been identified in sequencing data analysis., We report a duplication on the X chromosome encompassing Xq13.2q13.3 in a large Iranian family with X‐linked intellectual disability. There are seven affected males in ones and twos within two generations of the pedigree who presented with a similar phenotype, including ID, short stature, seizures, facial anomalies, behavioral abnormalities, speech impairment, and micropenis.

During the novel coronavirus pandemic, organ transplant recipients represent a frail susceptible category due to long‐term immunosuppressive therapy. For this reason, clinical manifestations may differ from general population and different treatment approaches may be needed. We present the case of a 36‐year‐old kidney transplanted woman affected by Senior‐Loken syndrome diagnosed with COVID‐19 pneumonia after a contact with her positive mother. Initial symptoms were fatigue, dry cough and coryza; she never had fever nor oxygen supplementation. Hydroxychloroquine and lopinavir/ritonavir were started, and the antiviral drug was replaced with darunavir/cobicistat after two days for diarrhea. Immunosuppressant levels were closely monitored, and we observed very high tacrolimus trough levels despite initial dose reduction. The patient was left with steroid therapy alone. The peculiarity of clinical presentation and the management difficulties represent the flagship of our case‐report. We stress the need for guidelines in transplant recipients with COVID‐19 infection with particular regard to the management of therapy.

Objective To report the development of the first robot-assisted kidney transplantation (RAKT) programme from deceased donors, examining technical feasibility and early perioperative and functional outcomes at a referral academic centre. Patients and methods A RAKT programme was developed in 2016 at our institution following structured modular training. Specific inclusion/exclusion criteria for both living and deceased donors were set. Data from patients undergoing RAKT from January 2017 to April 2018 were prospectively collected in an a priori developed web-based data set. RAKT followed the principles of the Vattikuti Urology Institute-Medanta technique, with specific technical modifications based on clinical recipient characteristics, as well as surgeon's skills and preference during the learning curve. Technical feasibility of RAKT from deceased donors and evaluation of perioperative and early functional outcomes were the main study endpoints. Results In all, 17 RAKTs were performed during the study period. Of these, six were from living donors and 11 were from deceased donors. All RAKTs were successfully completed without need of conversion. The median (interquartile range [IQR]) console time was 190 (160-220) min and the median (IQR) estimated blood loss was 120 (110-140) mL. The median times to complete venous, arterial and uretero-vesical anastomoses were 21, 22 and 21 min, respectively. The median (IQR) length of stay was 8 (6-12) days. At a median (IQR) follow-up of 8 (6-11) months, five (30%) complications were recorded. Of these, four (24%) were minor (Clavien-Dindo Grade I-II) and one major (Clavien-Dindo Grade IIIb, requiring graft nephrectomy). Overall, two patients were still on dialysis at last follow-up. A significant improvement in graft function was recorded progressively at all postoperative time points. Conclusion Our preliminary experience outlines that: (i) the development of a RAKT programme is feasible in centres experienced in robotic surgery and open kidney transplantation; (ii) RAKT from deceased donors is feasible from both a technical and logistical perspective; and (iii) RAKT from deceased donors appears to achieve favourable early postoperative and functional outcomes. Larger studies with longer follow-up are needed to confirm these findings and compare the outcomes of RAKT from deceased donors with those from living donors.

Background To determine reference echocardiographic values in a normal population and assess their correlation with body mass index (BMI) and body surface area. Methods An expert cardiologist performed two-dimensional echocardiography with triplicate right ventricle (RV) size measurements in 80 subjects with normal heart condition. Results were correlated with anthropometric data. Results Base-to-apex length in four-chamber view (RVD3) and above-pulmonic valve in short-axis view in males, as well as mid-RV diameter in standard four-chamber view (RVD), basal RV diameter, and mid RV diameter in RV-focused four-chamber view in females, were significantly correlated with BMI. All RV variables were significantly correlated with BMI in 20–30-year-old subjects. All RV variables except RVD3 and above-aortic valve in short-axis view (proximal) were significantly correlated with BMI in 35–55-year-old subjects. All RV parameters were significantly correlated with body surface area, except for RVD and in 20–35-year-old subjects. Conclusions RV echocardiographic values must be adjusted to anthropometric characteristics for proper diagnosis and management of cardiac disorders. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound, 2016