Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms. to evaluate clinical presentations and outcome of infantile cystinosis. A retrospective cohort study conducted in Sulaimani Pediatric Teaching Hospital on 25 patients with infantile cystinosis during May 1, 2014, to June 1, 2017. This study has depended on clinical symptoms and signs, and corneal crystallization for the diagnosis of cystinosis. Gender of the patients was 13 (52%) females and 12 (48%) males. The ages were ranged between (1-12 years) with a mean age of (6.25 years). Eight (32%) patients were from Sulaimani city, but the other 17 (68%) patients were from outside of Sulaimani. Moreover, a 17 (68%) of them were Arabic and the other eight (32%) were Kurdish ethnic groups. The study showed a 20 (80%) positive consanguinity with 19 (76%) positive family history of infantile cystinosis. Additionally, the age of first presentations was between (0.25-2 years) with a mean of (0.8 years). Clinical features included a 100% for polyuria, polydipsia, and failure to thrive. Furthermore, 10 (40%) presented with constipation, 23 (92%) photophobia and 5 (20%) blond hair. Complications included 24 (96%) rickets, 14 (56%) renal insufficiency, 5 (20%) hypothyroidism, 4 (16%) genu valgum, 3 (12%) growth hormone deficiency, and 3 (12%) developed end-stage renal disease. Subsequently, two patients died (8%) due to end-stage renal disease. Finally, there was a statistically significant relationship between both renal insufficiency (P-value = 0.042) and hypothyroidism (P-value < 0.001) with Kurdish ethnicity. Conclusion: Incidence of cystinosis was high among consanguineous parents and those patients who had a positive family history of cystinosis. Furthermore, the delay in diagnosis was due to atypical presentations and unavailability of specific investigations

A Syrian Refugee in Iraq Diagnosed as a Case of IL12RB1 Deficiency in Japan Using Dried Blood Spots

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare condition of primary immunodeficiency disorder. Interleukin-12 receptor β1 (IL12RB1) deficiency, is the most common genetic etiology of MSMD, which is characterized by the selective predisposition to clinical disease caused by weakly-virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccines, and environmental non-tuberculous mycobacteria (NTM). To the best of our knowledge, this is the first case of IL12RB1 deficiency to be reported from Iraq. Our case is an 8-year-old Syrian girl, for first-cousin parents, with a refugee-status in the North of Iraq. She had a history of disseminated BCG infection 2 months after receiving BCG vaccine, in addition to repeated episodes of mild or severe illnesses, such as maculopapular skin rash, lymphadenopathy, gastroenteritis, meningitis, and clinically diagnosed tuberculosis (TB) based on local TB-prevalence setting. Because of limited medical facilities in the war-torn countries; in Syria and Iraq, no diagnosis could be reached. We used Flinders Technology Associates (FTA) cards to transfer her bone marrow aspirate to Japan. A homozygous IL12RB1 mutation was detected by whole exome sequencing in Japan, using genomic-DNA extracted from dried bone marrow sample spots on FTA filter paper. In conclusion, diagnosis of MSMD due to IL12RB1 deficiency was possible by transferring the FTA sample of the patient for genetic evaluation in Japan. Our report recalls the need of pediatricians in countries with TB-prevalence and high parental consanguinity, to consider IL12RB1 deficiency in the differential diagnosis of a child with clinical evidence of TB, especially with the history of disseminated BCG disease

COVID-19 Vaccination Among Diverse Population Groups in the Northern Governorates of Iraq

Objectives: The present study was carried out to investigate COVID-19 vaccination coverage among populations of internally displaced persons (IDPs), refugees, and host communities in northern Iraq and the related underlying factors.Methods: Through a cross-sectional study conducted in five governorates in April–May 2022, 4,564 individuals were surveyed. Data were collected through an adapted questionnaire designed to gather data on participants.Results: 4,564 subjects were included (59.55% were 19–45 years old; 54.51% male). 50.48% of the participants (51.49% of host communities, 48.83% of IDPs, and 45.87% of refugees) had been vaccinated with at least one dose of COVID-19 vaccine. 40.84% of participants (42.28% of host communities, 35.75% of IDPs, and 36.14% of refugees) had been vaccinated by two doses, and 1.56% (1.65% of host communities, 0.93% of IDPs, and 1.46% of refugees) were vaccinated with three doses.Conclusion: Sociodemographic factors including age, gender, education, occupation, and nationality could affect vaccination coverage. Moreover, higher acceptance rate of vaccination is associated with belief in vaccine safety and effectiveness and trust in the ability of the vaccine to prevent complications

Electropolishing and Mirror-like Preparation of Titanium in Choline Chloride-Ethylene Glycol Mixture Liquid

This report presents simple, rapid and an efficient electropolishing of Ti metal in choline chloride-based ionic liquid (so called Ethaline) at 20 °C. This electrolyte is relatively benign and environmentally friendly which is desirable for electropolishing. Potentiostatic method was applied to Ti electropolishing in this electrolyte. Under an electrochemical condition of 6–10 V for 30 min. and at 20 °C, a promising electropolishing process was performed without obvious gas evolution. To characterize the electropolished surface, atomic force microscope (AFM) and scanning electron microscope (SEM) were used. The achieved an apparent mirror-like finished surface with an average surface roughness (Ra) was 5.7 nm which is considerably different from that of unpolished one (Ra = 118.8 nm). The microscopic results showed leveling and brightening of the surface of Ti by carrying out the current procedure. This electrolyte provides sufficient environment to dominate the mass transport mechanism which is responsible for reduction in the surface roughness

Infant with Life Threatening Thymic Carcinoma

Thymic epithelial neoplasms consist of thymomas, thymic carcinoids and thymic carcinomas. Carcinomas are malignant tumors of the thymus; they compromise only 4%-14% of thymic epithelial neoplasms. Thymic carcinoma cells do not resemble healthy cells but similar to cancer cells that originate from other parts of the body and grow more quickly when the tumor is found and more difficult to treat. Thymic carcinoma rarely occurs in children. We reported a case of undifferentiated thymic carcinoma in 11 months old female. After two courses of chemotherapy the patient developed increasing respiratory compression and unfortunately died because of respiratory failure

The transmission modes and sources of COVID-19 : A systematic review

The current rampant coronavirus infection in humans, commonly known as COVID-19, a pandemic that may cause mortality in humans, has been declared a global emergency by the World Health Organization(WHO). The morbidity and mortality rates due to the pandemic are increasing rapidly worldwide, with the USA most affected by the disease. The source COVID-19 is not absolutely clear; however, the disease may be transmitted by either by COVID-19-positive individuals or from a contaminated environment. In this review, we focused on how the COVID-19 virus is transmitted in the community. An extensive literature search was conducted using specific keywords and criteria. Based on the published report, it is concluded that COVID-19 is primarily transmitted human-to-human via oral and respiratory aerosols and droplets with the virus-contaminated environment play a lesser role in the propagation of disease. Healthcare providers and the elderly with comorbidities are especially susceptible to the infection

Genetic Insights from Consanguineous Cardiomyopathy Families

Inherited cardiomyopathies are a prevalent cause of heart failure and sudden cardiac death. Both hypertrophic (HCM) and dilated cardiomyopathy (DCM) are genetically heterogeneous and typically present with an autosomal dominant mode of transmission. Whole exome sequencing and autozygosity mapping was carried out in eight un-related probands from consanguineous Middle Eastern families presenting with HCM/DCM followed by bioinformatic and co-segregation analysis to predict the potential pathogenicity of candidate variants. We identified homozygous missense variants in TNNI3K, DSP, and RBCK1 linked with a dilated phenotype, in NRAP linked with a mixed phenotype of dilated/hypertrophic, and in KLHL24 linked with a mixed phenotype of dilated/hypertrophic and non-compaction features. Co-segregation analysis in family members confirmed autosomal recessive inheritance presenting in early childhood/early adulthood. Our findings add to the mutational spectrum of recessive cardiomyopathies, supporting inclusion of KLHL24, NRAP and RBCK1 as disease-causing genes. We also provide evidence for novel (recessive) modes of inheritance of a well-established gene TNNI3K and expand our knowledge of the clinical heterogeneity of cardiomyopathies. A greater understanding of the genetic causes of recessive cardiomyopathies has major implications for diagnosis and screening, particularly in underrepresented populations, such as those of the Middle East