Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.

Background: Aplasia cutis congenita is a heterogeneous disorders group with a rare reported incident of 0.5 to 1 in 10,000 births. ACC can be associated with physical defects or syndrome that may help in diagnosis, prognosis and further evaluation of the patient. Trisomy 13 is one of the most common fetal life limiting diagnosis which is associated with ACC of membranous type scalp. Objective: In this article, we report cases of aplasia cutis congenita of the scalp with dura and bone defect and exposed sagittal sinus in newborn diagnosed to have trisomy 13. It emphasizes the importance of ACC associated syndrome which is having high mortality prior to surgical intervention. Case presentation: The patient was born at 35 weeks of gestation. Her physical examination revealed a newborn girl with dysmorphic facial features including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low seat ears. She had area of loss of scalp skin and skull bone with seen brain tissue and sagittal sinus were exposed that was measure 6 by 5 cm in size. Additionally, she had a clenched fist and overlapping fingers and rocker bottom feet. Laboratory investigations include basic labs and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 in all 20 metaphase cells counts. Conclusion: The patient was managed conservatively. However, a multidisciplinary team agreed on do not resuscitate with no further surgical intervention as survival rate of trisomy 13 is poor.

Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn.

Aplasia cutis congenita (ACC) is a heterogeneous disorder with a rarely reported incidence of 0.5-1 in 10,000 births. ACC can be associated with physical defects or syndromes that may help in the diagnosis, prognosis, and further evaluation of the patient. Trisomy 13 is one of the most common fetal life-limiting diagnoses associated with ACC of membranous-type scalp. The patient was born at 35 weeks of gestation via a cesarean section due to fetal distress. Upon admission to our hospital, her pertinent physical examination revealed a newborn girl with dysmorphic facial features, including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low-set ears. She had an area of loss of scalp skin and skull bone with seen brain tissue and an exposed sagittal sinus that was 6 by 5 cm in size. She had a clenched fist, overlapping fingers, and rocker bottom feet. Precordium auscultation revealed medium-pitched high-grade continuous murmur heard best at the pulmonary position with a harsh machinelike quality that often radiated to the left clavicle. Laboratory investigations include basic labs, and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 (trisomy 13) in all 20 metaphase cell counts. The patient was managed with a moist gauze dressing, topical antibiotic ointment, and povidone-iodine. However, a multidisciplinary team agreed on a do-not-resuscitate (DNR) order with no further surgical intervention as the survival rate of trisomy 13 is poor. In this article, we report a case of aplasia cutis congenita of the scalp with dura and bone defect and an exposed sagittal sinus in a newborn diagnosed with trisomy 13. It emphasizes the importance of ACC-associated syndrome, which has high mortality prior to surgical intervention.

Disparities in oesophageal cancer risk by age, sex, and nativity in Kuwait:1980-2019.

BACKGROUND: This cross-sectional cohort study assessed the inequalities in oesophageal carcinoma risk by age, sex and nativity in Kuwait: 1980-2019. METHODS: Using oesophageal cancer incidence data from the Kuwait National Cancer Registry, relevant Kuwaiti population data and World Standard Population as a reference, age-standardized incidence rates (ASIR) (per 100,000 person-years) overall and by subcohorts were computed. The incident oesophageal cancer cases count was overdispersed with excessive structural zeros, therefore, it was analyzed using multivariable zero-inflated negative binomial (ZINB) model. RESULTS: Overall ASIR of oesophageal cancer was 10.51 (95% CI:  6.62-14.41). The multivariable ZINB model showed that compared with the younger age category (< 30 years), the individuals in higher age groups showed a significant (p < 0.001) increasing tendency to develop the oesophageal cancer.  Furthermore, compared with the non-Kuwaiti residents, the Kuwaiti nationals were significantly (p < 0.001) more likely to develop oesophageal cancer during the study period. Moreover, compared with 1980-84 period, ASIRs steadily and significantly  (p < 0.005) declined in subsequent periods till 2015-19. CONCLUSIONS: A high incidence of oesophageal cancer was recorded in Kuwait, which consistently declined from 1980 to 2019. Older adults (aged ≥ 60 years) and, Kuwaiti nationals were at high risk of oesophageal cancer. Focused educational intervention may minimize oesophageal cancer incidence in high-risk groups in this and other similar settings. Future studies may contemplate to evaluate such an intervention.

Case report: Restrictive cardiomyopathy presenting with complete thromboembolism occlusion of the terminal part of the abdominal aorta in a preadolescent Saudi girl.

Restrictive cardiomyopathy (RCM) is a rare disease in children, accounting for <5% of all pediatric cardiomyopathies. It may be idiopathic or may be a secondary to a systemic disease. The disease is characterized by normal systolic function with impaired ventricular filling caused by stiff ventricular walls. Children with RCM often present with symptoms of exercise intolerance, shortness of breath, weakness, and chest discomfort. Thromboembolism events are an unusual presentation of RCM. We are reporting a preadolescent female from the eastern province of Saudi Arabia who presented with sudden right lower limb swelling, paresthesia, and pain caused by a complete occlusion of the terminal part of the abdominal aorta and both common iliac arteries. Echocardiography revealed dilated atria, normal ventricle dimensions and two floating thrombi in the left atrium. The patient was successfully managed with an anticoagulant, surgical thrombectomy and cardiac transplantation.

Case Report: Jejunoileal Atresia With Persistent Poor Bowel Function Can Occur After Surgical Correction for Hirschsprung Disease.

Jejunoileal atresia (JIA) is one of the common etiologies of intestinal obtrusion in neonates. However, cases of concomitant ileal atresia and Hirschsprung disease (HD) rarely occur. We report the case of a male infant who had JIA concomitantly with HD that was re-anastomosed. The patient underwent an exploratory laparotomy to resect the dilated terminal ileum. Subsequently, owing to a significantly dilated proximal bowel, he underwent a second exploratory laparotomy. However, he continued to have feeding intolerance postoperatively. He had colonic aganglionosis and was diagnosed with HD. A third laparotomy was then performed. Additionally, he had recurrent episodes of gram-negative bacteremia, especially candida parapsilosis fungemia, despite receiving antibiotics and antifungal, and there were no identifiable underlying genetic or immunological causes. Finally, the patient had recurrent episodes of hypoglycemia, central hypothyroidism, and multiple organ failure and died at the age of 7 months. The concomitant ileal atresia and HD was thought to be due to a common intrauterine vascular accident, together with loss of bowel, thereby acting as a barrier for the caudal migration of neuromeric cells and leading to colonic aganglionosis. In this case, ileal atresia was associated with colonic aganglionosis, central hypothyroidism, and persistent bacteremia, which is a unique finding. In cases of JIA, persistent poor bowel function after surgical correction of concomitant HD should be considered.

Childhood leukaemia incidence and trends in a Middle Eastern country during 1980-2014: a population-based study.

BACKGROUND: This retrospective cohort study examines the trends in childhood leukaemia age-standardized incidence rates (ASIRs) (per million person-years) using cases which were diagnosed at age 0-19 years from 1980 to 2014 and recorded in the Kuwait Cancer Control Center (KCCC) registry. METHODS: Childhood leukaemia age-specific incidence rates overall and by sub-cohorts defined by age (0-4, 5-9, 10-14, and 15-19 years), sex (male, female) and nationality (Kuwaiti, non-Kuwaiti) were computed and age-standardized. Joinpoint regression models were used to evaluate trends in childhood leukaemia ASIRs. Average annual percent change (AAPC) and its 95% confidence interval (CI) were used to interpret the observed trends. RESULTS: During the study period, 1077 childhood leukaemia cases of 32.3 million person-years were diagnosed. From 1980 to 2014, the average annual childhood leukaemia ASIR was 53.1 (95% CI 20.9, 85.2). Overall childhood leukaemia ASIRs significantly decreased on average by 6.8% per year (AAPC = -6.8; 95% CI -12.1, -1.1; p = 0.02) from 1980 to 1993, but a marginally significant increase in ASIRs from 1993 to 2014 was recorded (AAPC = 2.5; 95% CI -0.5, 5.5; p = 0.10). During the entire period, childhood leukaemia ASIRs trends significantly (p < 0.05) increased among 6 of 16 sub-cohorts, which was more pronounced among females and 10-14-year-old children. CONCLUSIONS: Overall, ASIRs significantly increased from 1993 to 2014, which specifically seems to be driven by an increase in ASIRs among females and 10-14 -year-old children. These increasing trends underscore the potential involvement of a range of exposures. Future studies on unravelling such factors may help develop preventive measures to minimize childhood leukaemia risk in this and similar settings in the region.

Chronic urinary tract infection and bladder carcinoma risk: a meta-analysis of case-control and cohort studies.

OBJECTIVE: This meta-analysis of published case-control and cohort studies sought to quantify the magnitude and direction of association between chronic UTI (defined as the infection of the urinary tract that either does not respond to treatment or keeps recurring) and risk of bladder carcinoma (BCa) (i.e., including mainly urothelial carcinoma, squamous cell carcinoma or adenocarcinoma). METHODS: A literature search was conducted using Medline, Embase, Ovid, Web of Science, Science Direct and Cochrane Library, which was supplemented with manual search of reference lists of the identified articles. Case-control and cohort studies examining UTI as a predictor of BCa risk published through June 2016 were eligible. Using random-effects models, odds ratios (OR) or relative risks (RR) from eligible studies were combined to synthesize summary effect estimates. The included studies were assessed for methodological quality and potential publication bias. Heterogeneity by study characteristics was examined by sub-group and meta-regression analyses. RESULTS: Eighteen case-control and three cohort studies published between 1963 and 2016 were eligible. Random-effects models showed that UTI was significantly associated with an increased BCa risk both in case-control studies (summary ORRE = 2.33; 95% CI 1.86, 2.92) and cohort studies (summary RRRE = 2.88; 95% CI 1.20, 6.89). The observed relationship of UTI with an increased BCa risk was independent of the study characteristics considered. No significant publication bias was detected. CONCLUSIONS: Chronic UTI was significantly and independently associated with an increased BCa risk. However, due to the presence of high between-study heterogeneity and inconsistent patterns of adjusted confounding effects, more data are needed to clarify the role of chronic UTI in causation of BCa and if established, prompt and effective treatment of UTI may minimize a substantial proportion of BCa risk.

The knowledge, attitude and practices of male sports participants to sports-related dental trauma in Khobar and Dammam, Saudi Arabia - A pilot survey.

The risk of dental trauma may increase during sports participation. The purpose of this study was to evaluate the knowledge, attitude, and practices of sports participants concerning sports-related dental trauma and associated emergency/preventive practices. The study included 124 male subjects over 18 years of age participating in contact and non-contact sports in three clubs in the Eastern Province, Saudi Arabia. A questionnaire was used to assess past experience of dental trauma related to sports in addition to the use of a mouth guard and knowledge of related emergency procedures. Outcomes were compared between individuals practicing direct and non-direct contact sports. One third of the participants had experienced dental trauma while playing sports, mostly crown fracture, mobility, and avulsion. Their knowledge of first aid and emergency procedures was inadequate. A significantly higher proportion of non-direct contact sport participants sought the help of a dentist for themselves or others (P = 0.04 and 0.003, respectively). Only 33.9% used mouth guards, with higher odds of mouth guard use associated with participating in direct contact sports and believing a tooth can be lost during sports practice (odds ratio = 5.59 and 5.37, respectively). Educational programs are needed to increase the awareness in sports participants of the risk of dental trauma during sports participation, to improve their knowledge of first aid procedures, and to increase the use of mouth guards.

Month of birth and risk of multiple sclerosis in Kuwait: a population-based registry study.

BACKGROUND: Multiple sclerosis (MS) is a complex immune-mediated disorder of central nervous system with undefined etiology. This study examined the month of birth effect on subsequent MS risk later in the life in Kuwait. METHODS: The month of birth of MS patients enrolled in Kuwait MS Registry between 1 January 1950-30 April 2013 was compared with the month of births in the general population during the comparable period. Multivariable log-linear Poisson regression model was used to analyze the data. RESULTS: Data on 1035 confirmed MS patients were collected, of which 65.2% were female and 77.1% were Kuwaiti. The overall risk of MS births (per 10(5) births in general population) was 28.5 (95% confidence interval (CI): 26.8-30.3). Multivariable log-linear Poisson regression model showed a significant (p=0.004) peak in the number of MS births during December (θo=340(o)). During this month, the risk of MS birth was 1.3 times the risk of MS birth in the trough month after adjusting for the effects of gender and nationality (adjusted relative risk=1.3; 95% CI: 1.1-1.6). The amplitude (α±standard deviation: 0.13±0.014) of sinusoidal curve showed a significant (p=0.004) difference of 13% from the mean to maximum MS births during peak month. CONCLUSIONS: This study showed a statistically significant month of birth effect on MS risk with 13% excess MS births during December in Kuwait. Future studies may contemplate ascertaining the seasonal factors eliciting the observed association. The insight gained by unraveling such factors may help curtail MS risk in this and other similar settings in the region.

Non-parametric analysis of seasonality in birth and multiple sclerosis risk in second generation of migrants in Kuwait.

BACKGROUND: There are inconsistent reports about multiple sclerosis (MS) risk among migrants from low to high MS risk geographical regions. This study assessed the overall MS incidence and evaluated seasonality in birth and subsequent MS risk later in the life in second generation of migrants born and lived in Kuwait. METHODS: We assessed the overall and gender-specific MS risk in second generation of migrants born and lived in Kuwait between January 1, 1950 and April 30, 2013. Data on migrants' MS patients diagnosed and registered in Kuwait National MS Registry were used. Hewitt's non-parametric test was carried out to evaluate the seasonality in migrants' MS births in comparison with the second generation migrants' births in general population. RESULTS: During the study period, an overall risk of migrants' MS births (per 100,000 non-Kuwaiti births in general population) was 23.8 (95% CI: 20.8 - 27.0). Gender-specific MS risk showed that non-Kuwaiti female had statistically significant (p = 0.003) higher risk (28.6; 95% CI: 24.2 - 33.7) than non-Kuwaiti males (18.7; 95% CI: 15.1-23.0). The month-specific distribution of migrants' MS births compared with migrants' births in general population did not differ significantly (χ2 goodness-of-fit test statistic = 9.51, p = 0.575). Hewitt's non-parametric test revealed an evidence of slight but statistically non-significant (p = 0.090) increased tendency of migrants' MS births during September through February. CONCLUSIONS: The proportion of migrants' MS births (per 100,000 migrants' births in general population) over the study period was 23.8 (95% CI: 20.8 - 27.0), which was statistically significantly higher than the previously reported Kuwaiti national MS births (16.2; 95% CI: 15.1-17.4) in Kuwait. Non-parametric analysis showed slight but statistically non-significant increased tendency of migrants' MS births from September through February. Knowledge of MS risk factors and how and when they act among genetically vulnerable individuals from gestation to early adulthood will help design prevention strategies.