Environmentally sustainable synthesis of whey-based carbon dots for ferric ion detection in human serum and water samples: evaluating the greenness of the method.

Carbon dots (CDs) are valued for their biocompatibility, easy fabrication, and distinct optical characteristics. The current study examines using whey to fabricate CDs using the hydrothermal method. When stimulated at 350 nm, the synthetic CDs emitted blue light at 423 nm and revealed a selective response to ferric ion (Fe3+) in actual samples with great sensitivity, making them a suitable probe for assessing Fe3+ ions. The produced carbon dots demonstrated great photostability, high sensitivity, and outstanding biocompatibility. The findings showed that Fe3+ ions could be quickly, sensitively, and extremely selectively detected in an aqueous solution of carbon dots, with a revealing limit of 0.409 µM in the linear range of 0-180 µM. Interestingly, this recognition boundary is far inferior to the WHO-recommended threshold of 0.77 µM. Two metric tools which were AGREE and the ComplexGAPI were also used to evaluate the method's greenness. The evaluation confirmed its superior environmental friendliness.

Pulse Pressure: A Predictor of Intervention in Blunt Abdominal Trauma.

BACKGROUND: Patients with life-threatening hemorrhages due to blunt torso trauma are at a particularly high risk of being underdiagnosed. The pulse pressure (PP) starts narrowing down before the traditional parameters start changing, making it a useful tool for assessing and planning early intervention. OBJECTIVE: To assess the utility of low PP in predicting massive transfusion (MT) or operative intervention in patients with isolated blunt abdominal trauma. MATERIAL AND METHODS: A total of 186 patients were included. The PP and mean arterial pressure (MAP) were calculated. Vitals, PP, and MAP were monitored every 15 min during the first 6 h, then every 30 min during the next 6 h, and afterward, every 4 h until discharge. A Chi-square test and an independent t-test (as appropriate) were applied to compare variables with PP at the time of presentation. Differences were considered statistically significant at p-value ≤ 0.05. RESULTS: A total of 55.9% of these patients had injuries due to road traffic accidents (RTA). Emergency operative intervention was provided to 26.3% of the patients. Death was 4.3%. MT was required by 26.3% of the patients. There was a statistically significant association between low PP and sex, length of stay, repeat extended focused assessment with sonography in trauma (eFAST), emergency operational intervention, outcome, MT, number of crystalloids consumed within the first four hours after presentation, injury severity score, systolic blood pressure (SBP), and pulse rate. CONCLUSION: The PP <30 mmHg was observed as a useful predictor for increased blood loss requiring blood transfusion or operative intervention.

Dual-template molecularly surface imprinted polymer on fluorescent metal-organic frameworks functionalized with carbon dots for ascorbic acid and uric acid detection.

In this work, dual-template molecularly imprinted polymer surfaces imprinted on blue fluorescent Cr-based MOF (Cr-MOF) functionalized with yellow emissive carbon dots (Y-CDs) were prepared using l-ascorbic acid (AA) and uric acid (UA) as templates for simultaneous selective recognition of AA and UA. The as-prepared nanocomposite probe (Y-CDs/Cr-MOF@MIP) contains two recognition site cavities and emits a dual well-resolved fluorescence spectra when excited at 390 nm; blue emission (λem 450 nm) is due to Cr-MOF, and yellow emission (λem 560 nm) is due to Y-CDs. The yellow fluorescence emission of Y-CDs was quenched upon the addition of ascorbic acid, while Cr-MOF's emission remained unaffected. In the same way, the blue fluorescence emission of the Cr-MOFs was quenched in the presence of uric acid, while the yellow emission remained constant. Both emissions were quenched in a sample containing both AA and UA. This can be exploited to design a dual-template biosensor to detect UA and AA simultaneously. The Y-CDs/Cr-MOF@MIP sensor displayed a dynamic linear response for AA in the range 25.0 µM - 425.0 µM with a detection limit of 1.30 µM, and for UA in the range 25.0 µM - 425.0 µM with a detection limit of 1.10 µM. The dual-target probe Y-CDs/Cr-MOF@MIP was highly selective and sensitive for the detection of UA and AA in human urine samples due to the selectivity of the two recognition sites.

Volumetric and radiomics assessment of lesions with incidental [18F]FDG uptake in the colon: a retrospective radiomics study.

BACKGROUND: To evaluate the power of volumetric and radiomic tissue data obtained from the images of the lesions in predicting the histopathological diagnosis in patients with incidental colorectal focal FDG uptake detected by [18F]FDG PET/CT imaging. METHODS: Electronic records of patients who underwent [18F]FDG PET/CT for various malignancies between January 2016 and January 2020 were retrospectively reviewed. 98 lesions of 80 patients with colonoscopic and histopathological results were included in the study. The lesions were divided into 3 groups according to their histopathological diagnosis as benign, premalign and malign. [18F]FDG PET/CT images obtained from the patients were evaluated using LIFEx software. Volumetric and radiomic textural features were obtained by establishing the region of interest (ROI) of the primary tumor. The [18F]FDG PET/CT parameters of the lesions were compared between the groups. In order to evaluate the predictive power of the parameters obtained with [18F]FDG PET/CT, the area under the curve (AUC), sensitivity and selectivity values, negative and positive predictive values were calculated by ROC analysis. RESULTS: The volumetric and radiomic tissue analysis parameters of the lesions in the malignant group were significantly different when compared to the other groups. Our study showed that SUVmax value can be used as a marker in the diagnosis of pathological malignancy (AUC=0.737 and P=0.001 95% CI: 0.619-0.855). Contrast and entropy parameters of GLCM matrix, which are radiomic texture features, were found to be used in the prediction of malignancy (AUC=0.685 and AUC=0.692, P=0.041 and P=0.035, respectively. Similarly, parameters of NLGDM, GLRLM and GLZLM matrices were shown to have statistically significant diagnostic values in predicting malignancy. However, no superiority of these parameters over each other in predicting malignancy was observed. CONCLUSIONS: In our study, the parameters of radiomic textural analysis together with volumetric parameters have been shown to have diagnostic value in noninvasively determining lesion characterization and defining tissue in lesions with incidental colorectal focal FDG uptake detected by [18F]FDG PET/CT imaging.

Cardiac phase-resolved late gadolinium enhancement imaging.

Late gadolinium enhancement (LGE) with cardiac magnetic resonance (CMR) imaging is the clinical reference for assessment of myocardial scar and focal fibrosis. However, current LGE techniques are confined to imaging of a single cardiac phase, which hampers assessment of scar motility and does not allow cross-comparison between multiple phases. In this work, we investigate a three step approach to obtain cardiac phase-resolved LGE images: (1) Acquisition of cardiac phase-resolved imaging data with varying T 1 weighting. (2) Generation of semi-quantitative T 1 * maps for each cardiac phase. (3) Synthetization of LGE contrast to obtain functional LGE images. The proposed method is evaluated in phantom imaging, six healthy subjects at 3T and 20 patients at 1.5T. Phantom imaging at 3T demonstrates consistent contrast throughout the cardiac cycle with a coefficient of variation of 2.55 ± 0.42%. In-vivo results show reliable LGE contrast with thorough suppression of the myocardial tissue is healthy subjects. The contrast between blood and myocardium showed moderate variation throughout the cardiac cycle in healthy subjects (coefficient of variation 18.2 ± 3.51%). Images were acquired at 40-60 ms and 80 ms temporal resolution, at 3T and 1.5, respectively. Functional LGE images acquired in patients with myocardial scar visualized scar tissue throughout the cardiac cycle, albeit at noticeably lower imaging resolution and noise resilience than the reference technique. The proposed technique bears the promise of integrating the advantages of phase-resolved CMR with LGE imaging, but further improvements in the acquisition quality are warranted for clinical use.

Rehabilitation of a patient with bilateral rectus abdominis full thickness tear sustained in recreational strength training: a case report.

STUDY DESIGN: Case Report. BACKGROUND: Abdominal wall muscle injuries have been reported in handball, tennis, and baseball; however, a bilateral full-thickness tear of the rectus abdominis muscle and its rehabilitation have not previously been described. This report aims to describe a case of an acute bilateral full-thickness rectus abdominis tear simulating an acute abdomen that presented to an emergency department. CASE DESCRIPTION: A 25-year-old male (169 cm, 84 kg) was transferred to the emergency room due to severe lancinating (Numerical Pain Rating 10/10) abdominal pain that occurred during weight training at a gym. An orthopedic surgeon, an internist, and a general surgeon assessed him for internal and surgical emergencies. The magnetic resonance imaging of his abdomen revealed a bilateral full-thickness tear of the rectus abdominis muscle. The patient was given an option of surgical repair of the RA, but he refused. Six weeks later, he attended our sports medicine department. A criteria-based rehabilitation program was planned, with weekly follow-ups. OUTCOMES: The patient could walk pain-free at 4th week and jog at 10th week of rehabilitation. Significant improvements in the range of movement of the trunk, pain levels and functional capacity were noted at discharge and 6 and 12-month follow-ups. DISCUSSION: Clinical management of this patient is described in detail, with emphasis on diagnostic ultrasonography. The structured rehabilitation program used for this patient resulted in a return to pre-injury level function.

Managing a patient with bipolar disorder associated with COVID-19: A case report from Qatar.

This case highlights an atypical presentation of a patient with unknown history of mental disease who has been diagnosed with a bipolar disorder associated with severe COVID-19 symptoms. Neuroimaging was only positive for subtle white matter changes; he was treated with antipsychotics and mood-stabilizing agents until he reached partial remission. The authors urge clinicians to consider the impact of the COVID-19 pandemic on patients with mental illness and the urgent need for vigilant monitoring of presenting signs and symptoms.

Free-breathing simultaneous T1 , T2 , and T2∗ quantification in the myocardium.

PURPOSE: To implement a free-breathing sequence for simultaneous quantification of T1 , T2 , and T2∗ for comprehensive tissue characterization of the myocardium in a single scan using a multi-gradient-echo readout with saturation and T2 preparation pulses. METHODS: In the proposed Saturation And T2 -prepared Relaxometry with Navigator-gating (SATURN) technique, a series of multi-gradient-echo (GRE) images with different magnetization preparations was acquired during free breathing. A total of 35 images were acquired in 26.5 ± 14.9 seconds using multiple saturation times and T2 preparation durations and with imaging at 5 echo times. Bloch simulations and phantom experiments were used to validate a 5-parameter fit model for accurate relaxometry. Free-breathing simultaneous T1 , T2 , and T2∗ measurements were performed in 10 healthy volunteers and 2 patients using SATURN at 3T and quantitatively compared to conventional single-parameter methods such as SASHA for T1 , T2 -prepared bSSFP, and multi-GRE for T2∗ . RESULTS: Simulations confirmed accurate fitting with the 5-parameter model. Phantom measurements showed good agreement with the reference methods in the relevant range for in vivo measurements. Compared to single-parameter methods comparable accuracy was achieved. SATURN produced in vivo parameter maps that were visually comparable to single-parameter methods. No significant difference between T1 , T2 , and T2∗ times acquired with SATURN and single-parameter methods was shown in quantitative measurements (SATURN T1=1573±86ms , T2=33.2±3.6ms , T2∗=25.3±6.1ms ; conventional methods: T1=1544±107ms , T2=33.2±3.6ms , T2∗=23.8±5.5ms ; P>.2 ) CONCLUSION: SATURN enables simultaneous quantification of T1 , T2 , and T2∗ in the myocardium for comprehensive tissue characterization with co-registered maps, in a single scan with good agreement to single-parameter methods.

Evaluation of the Effectiveness of Esterified Hyaluronic Acid Fibers on Bone Regeneration in Rat Calvarial Defects.

Hyaluronic acid (HA) constitutes one of the major components of the extracellular matrix domain in almost all mammals. The aim of this study was to evaluate the regenerative capacity of HA matrix in rat calvarial bone defects and compare with those of different combinations of resorbable collagen membrane (M) and bovine-derived xenograft (G). Twenty-four 3-month-old male Sprague-Dawley rats weighing 200-250 g were included. Control group was created by leaving one defect empty from 2 critical size defects with 5 mm diameter formed in the calvarial bones of 8 rats. In the same rats, the other defect was treated with HA matrix alone. One of the 2 defects formed in other 8 rats was treated with HA+G and the other with HA+M. One of the 2 defects formed in the remaining 8 rats was treated with G+M and the other with HA+G+M. The animals were sacrificed at 4 weeks. Histologic, histomorphometric, and immunohistochemical analyses were performed. Both HA matrix alone and its combinations with G and M supported new bone formation (NBF). However, NBF was significantly greater in G+M and HA+G+M groups compared to control and HA alone (P<0.001). Bone morphogenetic protein-2 was expressed with varying degrees in all groups, without any difference among them. Within the limitations of the present study, HA matrix, used alone or in combination with G and M, did not contribute significantly to bone regeneration in rat calvarial bone defects.

Successful return to play following adductor longus proximal tendon rupture in professional soccer without re-injury at 12 months: A case report.

Treatment of total ruptures of adductor longus is challenging in professional sports. Time for return to pre-injury level as well as re-injury rates are of concern and surgical and conservative treatment approaches are debated; yet no consensus approach described for professional athletes. We present a case of a professional soccer player who experienced a rupture in his left adductor longus proximal tendon during a game and was treated conservatively. This case was followed-up during clinical assessment, imaging and strength testing until and after return to play. Primary outcome measure was the return to standard play condition at his pre-injury level without any functional deficits, measured by isokinetic testing. Second outcome measure was the recurrence. No recurrence was observed during the first year of follow-up. Total ruptures are very challenging for both the physician and the player to make a quick decision due to minimal or lack of pain. Functional outcomes are almost identical although operative treatments need longer time to return to play. This case report adds another example to the literature of a successful return to play after non-operative treatment of adductor longus rupture at elite level soccer.

Athlete presentations and injury frequency by sport at a sports medicine university clinic.

BACKGROUND: We aimed to investigate the profile of athletes by determining the branch of sports, type, and area of sustained sports injury, and the frequencies through athletes' presentations to the largest university clinic in one of the most crowded and athlete-populated cities of Turkey, Istanbul. METHODS: The study population comprised 1302 athletes who presented to the sports medicine clinic between the dates of July 1st, 2014, and June 30th, 2015. This record-based study examined all athlete presentations using the physical examination cards. RESULTS: Eight hundred and sixty-five of the athletes were male. The median age of applicants was 21 years (interquartile range 16-30 years), the median body mass index was 22.23 kg/m2 (range, 20.01-24.67 kg/m2), and the median years of sports activity was 5 years (range, 0-10 years). Presentations to the clinic were significantly higher in April (p=0.003). The most commonly injured body part was the knee and soccer was the leading sport among the patients; anterior cruciate ligament injury was the most common pathology among soccer players. CONCLUSIONS: Athletes who presented to our clinic most commonly sustained a lower extremity injury. It was notable that ligament injuries were seen as commonly as muscle injuries.

Comparison of performance and abnormal cell flagging of two automated hematology analyzers: Sysmex XN 3000 and Beckman Coulter DxH 800.

INTRODUCTION: The purpose was to evaluate the analytical performances of Sysmex XN 3000 and UniCel DxH 800 comparing the obtained results with manual counting and between each other. Also flagging capabilities of abnormal cells were compared for both analyzers. METHODS: Two thousand one hundred and forty-two whole-blood samples were analyzed for evaluation. The samples flagged due to blast, atypical lymphocyte (AL), immature granulocyte (IG), or nucleated red blood cells (NRBC) were microscopically reviewed (n=102). RESULTS: The within-run and between-day coefficient of variations (CV%) of XN 3000 for hemoglobin, RBC, MCV, WBC, and platelets were lower than 5% and for WBC differentials lower than 10% except monocytes which was 15.6% at low level. The precision results of DxH 800 were also lower than 5.0% except platelets (9.5%) and monocytes (45%) at low level. The comparison of analyzers revealed good agreement (R>.86), except monocytes and basophils. The flagging sensitivities of XN 3000 were higher for IGs, blasts, and ALs than those of DxH 800 and almost similar for NRBC. CONCLUSION: The XN 3000 and DxH 800 are accurate, highly precise systems and can be used effectively in high-volume laboratories. The flagging sensitivity of XN 3000 was higher in detecting blasts, IGs, and ALs than that of DxH 800. The detection of abnormal cells with high sensitivity may improve laboratory workflow with a reduced slide review and accelerated turnaround time.

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.

BACKGROUND: Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia. Brain MRI typically shows cerebral atrophy with simplified gyral pattern and delayed myelination. Only 12 cases have been described to date. The disease is caused by homozygous or compound heterozygous mutations in the ASNS gene on chromosome 7q21. CASE PRESENTATION: Family 1 is a multiplex consanguineous family with five affected members, while Family 2 is simplex. One affected from each family was available for detailed phenotyping. Both patients (Patients 1 and 2) presented at birth with microcephaly and severe hyperekplexia, and were found to have gross brain malformation characterized by simplified gyral pattern, and hypoplastic cerebellum and pons. EEG showed no epileptiform discharge in Patient 2 but multifocal discharges in patient 1. Patient 2 is currently four years old with severe neurodevelopmental delay, quadriplegia and cortical blindness. Whole exome sequencing (WES) revealed a novel homozygous mutation in ASNS (NM_001178076.1) in each patient (c.970C > T:p.(Arg324*) and c.944A > G:p.(Tyr315Cys)). CONCLUSION: Our results expand the mutational spectrum of the recently described asparagine synthetase deficiency and show a remarkable clinical homogeneity among affected individuals, which should facilitate its recognition and molecular confirmation for pertinent and timely genetic counseling.

Is there an effect of thyroid autoimmunity on the outcomes of assisted reproduction?

We aimed to evaluate the role of thyroid autoantibodies (TAA) on the outcomes of intracytoplasmic sperm injection-embryo transfer (ICSI-ET). A prospective case-control study was conducted in the in vitro fertilisation (IVF) centre of Suleymaniye Maternity Training and Research Hospital, Istanbul, Turkey between July 2013 and March 2014. A total of 49 (19.52%) TAA-positive and 202 TAA-negative patients were enrolled. Demographic characteristics and laboratory parameters were recorded. All patients underwent ICSI-ET. Thirty-one TAA-positive patients (32 cycles) and 121 TAA-negative patients (126 cycles) completed the study. Mean female age, body mass index (BMI), type of infertility, duration of infertility, antral follicle count (AFC), anti-Müllerian hormone (AMH), basal follicle stimulating hormone (bFSH), luteinising hormone (bLH), and oestradiol (bE2), prolactin and thyroid hormone profiles, male age and aetiology of infertility of both groups were similar (p > 0.05). There was no significant difference between groups in terms of duration and dose of gonadotropin (Gn) therapy, day of human chorionic Gn (hCG) administration, serum E2 and progesterone levels, number of collected oocytes, ratio of fertilisation, number of available embryos, positive pregnancy test, biochemical pregnancy, clinical pregnancy, ratio of miscarriage and ongoing pregnancy (p > 0.05). In conclusion, we failed to demonstrate a significant role of TAA on the outcomes of ICSI-ET in euthyroid patients. Further studies with larger numbers of participants are required to clarify these data.

Exosomal lncRNA-p21 levels may help to distinguish prostate cancer from benign disease.

Exosomes are membranous vesicles containing various biomolecules including lncRNAs which are involved in cellular communication and are secreted from many cells including cancer cells. In our study, investigated the exosomal GAS5 and lincRNA-p21 lncRNA levels in urine samples from 30 patients with prostate cancer (PCa) and 49 patients with benign prostatic hyperplasia. Quantification of lncRNA molecules was performed by real-time PCR. We observed a significant difference in the exosomal lincRNA-p21 levels between PCa and BPH patients whereas the GAS5 levels did not reveal a difference. Our data suggest that the discriminative potential of exosomal lincRNA-p21 levels may help to improve the diagnostic prediction of the malignant state for patients with PCa.

Intraocular Pressure Changes After Spinal Anesthesia--Acute and Subacute Effects on Surgery Patients.

BACKGROUND: Spinal anesthesia has become appropriate for many surgical procedures. Neuraxial anesthesia can result in acute and late complications like hypotension, bradycardia, local anesthetic toxicity, postdural-puncture headache, backache and spinal nerve damage. Although the body's physiological responses to spinal anesthesia are well understood, its effects on intraocular pressure (IOP) haven't been mentioned before. OBJECTIVES: The aim of this study was to investigate the effects of spinal anesthesia on IOP. MATERIAL AND METHODS: Forty patients receiving spinal anesthesia for subumblical surgery were recruited for the study, after ethics committee approval and patients' written informed consent. IOP was measured by Icare PRO tonometer (Icare, Finland) before spinal anesthesia (BS), immediately after spinal anesthesia (AS) and finally on the first postoperative day (PO1). Both eyes of the patients were included in the study. RESULTS: Thirty-eight patients completed the study. Mean BS, AS and PO1 intraocular pressures were 16.53±3.17 (9.40-24.00), 17.08±3.16 (10.00-24.00) and 16.76±2.80 (10.20-23.00) mm Hg, respectively. Mean IOP measurements were not statistically different among the three groups (p=0.104). CONCLUSIONS: Spinal anesthesia alone has no acute or subacute effects on IOP. Studies can be made to evaluate the chronic effects. Further studies must be focused on the relationship between postdural puncture headache and intraocular pressure changes after spinal anesthesia.

Surgery as a career choice among medical students at University of Medical Sciences and Technology.

BACKGROUND: Medical students are the source of a country's surgeons. There are concerns regarding a possible decline in the proportion of students choosing surgery as a career in some developing countries. OBJECTIVE: To identify the level of interest in surgical careers and the factors influence a student's interest in pursuing a surgical career in Sudan. METHODS: A cross-sectional descriptive study was conducted in September 2013 at the Faculty of Medicine, University of Medical Sciences and Technology, Khartoum, Sudan. A self administered questionnaire was distributed to 887 male and female students, (from first to fifth academic years) recruited in the study. RESULTS: Response rate was 73% with 647 questionnaires were collected, out of 887 medical students. Of the returned questionnaires, 604 were valid. Most of the students have decided upon a specialty 541 (89.6%) while 63 (10.4%) did not. Two hundred (36.9%) out of the 541 respondents stated that surgery is their choice for specialty. General Surgery was the popular surgical specialty (48%), followed by Cardiothoracic Surgery (16.5%), Neurosurgery (11%) and Orthopedics (10.5%). Compared with students interested in a career in other medical specialties, those interested in surgery were younger (Pre-clerkship students). CONCLUSION: Surgery is the most popular choice of postgraduate training by medical students. Fewer than half of the medical students who choose surgery were willing to consider general surgery as a future career choice. Financial reasons and advice from of others were considered by many students as important factors to select surgery.

Infants of diabetic mothers. A cohort study.

OBJECTIVE: To determine the outcome of infants born to diabetic mothers at Security Forces Hospital, Riyadh, Saudi Arabia, and compare the complications seen in these infants with infants of non-diabetic mothers. METHODS: This is a concurrent prospective cohort study of a population of newborn infants delivered at Security Forces Hospital, Riyadh, Saudi Arabia for diabetic mothers between January 2011 and November 2011. RESULTS: A total of 601 infants were enrolled in the study consisting of 319 infants of non-diabetic mothers, and 282 infants of diabetic mothers. Infants of diabetic mothers showed significantly higher rates of associated complications and prolonged hospital stay reflected in their admission to the neonatal intensive care when compared with infants of non-diabetic mothers. There was no difference in rate of complications between infants of gestational diabetics and pre-gestational diabetics. CONCLUSION: Our study showed that diabetic pregnancies are associated with an increased incidence of neonatal complications. These seem to be related to the degree of maternal glycemic control. The higher rates of complications among our infants of diabetic mothers, particularly major congenital malformations call for those involved in the care of diabetic mothers to consolidate their efforts to facilitate early booking in specialist clinics.

Sirenomelia and severe caudal regression syndrome.

OBJECTIVE: To describe cases of sirenomelia and severe caudal regression syndrome (CRS), to report the prevalence of sirenomelia, and compare our findings with the literature. METHODS: Retrospective data was retrieved from the medical records of infants with the diagnosis of sirenomelia and CRS and their mothers from 1989 to 2010 (22 years) at the Security Forces Hospital, Riyadh, Saudi Arabia. A perinatologist, neonatologist, pediatric neurologist, and radiologist ascertained the diagnoses. The cases were identified as part of a study of neural tube defects during that period. A literature search was conducted using MEDLINE. RESULTS: During the 22-year study period, the total number of deliveries was 124,933 out of whom, 4 patients with sirenomelia, and 2 patients with severe forms of CRS were identified. All the patients with sirenomelia had single umbilical artery, and none were the infant of a diabetic mother. One patient was a twin, and another was one of triplets. The 2 patients with CRS were sisters, their mother suffered from type II diabetes mellitus and morbid obesity on insulin, and neither of them had a single umbilical artery. Other associated anomalies with sirenomelia included an absent radius, thumb, and index finger in one patient, Potter's syndrome, abnormal ribs, microphthalmia, congenital heart disease, hypoplastic lungs, and diaphragmatic hernia. CONCLUSION: The prevalence of sirenomelia (3.2 per 100,000) is high compared with the international prevalence of one per 100,000. Both cases of CRS were infants of type II diabetic mother with poor control, supporting the strong correlation of CRS and maternal diabetes.

Genetic, chromosomal, and syndromic causes of neural tube defects.

OBJECTIVE: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. METHODS: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. RESULTS: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. CONCLUSION: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.