Mucopolysaccharidoses type VI is a rare disorder and establishing the diagnosis requires assays that are unavailable in a routine care setting. There is an increased risk of considerable diagnostic delay and missing patients due to incorrect diagnosis. The present study was conducted to determine the socio-demographic characteristics, clinical manifestations, and anthropometric parameters of patients with MPS type VI. Patients' enzyme levels and genetic profiles were also examined. The present study included a total of 16 patients who had been diagnosed as MPS type VI and were referred to Hivi Pediatric Hospital in Duhok, Kurdistan Region, Iraq, till the time period of March 2022. Diagnoses were made in all the patients by analyzing the enzyme level. Moreover, a genetic study was performed to confirm the diagnosis. From each of the patients, a blood sample was taken to determine the hematological parameters. Among the study participants, 9 were males and 7 were females. The mean age of the patients was 6.81±4.99 years and the age at diagnosis was 21.13±15.19 months. All of them presented with a course facial features, 75% had short stature, 87.5% had corneal clouding, 12.5% had glaucoma, 68.75% had poor vision, 18.75% of them had optic nerve disease, 56.25% had otitis media, 56.25% had poor hearing, 68.75% had a history of recurrent sinusitis, 50% had an enlarged tongue, and 75% had abnormal teeth. Approximately 56.25% of the patients presented with sleep apnea, 37.5% had obstructive and restrictive airway disease, none of the patients had cardiac arrhythmia, 37.5% had cardiomyopathy, 31.25% had abdominal hepatosplenomegaly, 81.25% had skeletal abnormalities, all of the patients had normal intelligence, 9 (56.25%) had a past medical history of other systemic illness and 7 (43.75%) had a past history of surgery. Out of the total number of patients, 13 patients had c.962T>C (p.(Leu321Pro)) mutation, one patient had c.585T>A (p.(ASP195Glu)) mutation, one patient had c.[585T>A];[753C>G] (Asp195 Glu];[Tyr251 Ter]), and one patient had c.{288C>A];[962T>C] (p.[Ser96Arg];[Leu321Pro]) mutations. Due to the rarity in prevalence, early detection of the said disorder is critical; early treatment may result in improved outcomes, which may have potential significance for newborn screening.  

Pompe disease which is glycogen storage disease type II, is an autosomal recessive lysosomal storage disorder where GAA gene mutations cause deficiency of acid alpha-glucosidase leading to deposition of glycogen in various tissues. Chromosome 17q25.2–25.3 is the location of GAA gene. This study aims to collect information on the Pompe disease symptoms’ severity and genotypes of 18 children who represented all infant patients with Pompe disease until March 1st, 2024. For diagnosis tandem mass spectrometry and genetic study were used. Muscle strength was assessed by hand-held dynamometry. Cardiac assessment was by echocardiography and electrocardiography. The feeding and swallowing difficulties in the patients were addressed. Statistical analysis was used PA in 11.1% of all the patients. Childhood Pompe disease course varies widely. It is important to consider Pompe disease in the differential diagnosis of patients with unexplained fatigue and weakness and cardiorespiratory involvement.

Type 1 Diabetes Mellitus is an autoimmune disorder that occurs in the Β-cells of pancreatic islets. Vitamin D is essential in maintaining the bone health. It has proven that Vitamin D has an autoimmune disorders including T1DM. Hence, the aim is to detect the prevalence of vitamin D deficiency among children with T1DM. A case control study conducted in Duhok, North of Iraq between 15th of February and 15th of August 2016. 100 enrolled participants aged from 5 to 15 years of both genders were divided in to two groups. Fifty of them had T1DM and 50 children who were healthy and non-diabetic. All participants were studied in terms of age, gender, duration of diabetes, glycemic control (HbA1c) and Body Mass index .Samples of blood were taken to measure serum Vitamin D and HbA1c levels. Mean serum Vitamin D level in diabetic group was 6.068 ±2.45 ng/mL while in the control group it was 21.101 ±9.23 ng/mL. Vitamin D were lower in the diabetic patients than controls (P= 0.01). Vitamin D level was indirectly correlated with duration of diabetes (P=0.01).Level of Vitamin D was decreased with increasing HbA1C (P=0.01). Level of Vitamin D was not significantly related to body mass index. Vitamin D level is not significantly related to body mass index.

Mucopolysaccharidosis type IV also known as Morquio syndrome is a rare autosomal recessive lysosomal storage disorder due to deficiency of either N-acetyl-galactosamine-6-sulfatase (type A) or deficiency of beta-galactosidase (type B) which results in damages of bones, cartilages, eye corneas, skin and connective tissue. The objective of this study was to explore the relationship between specific gene mutations (c.860C>T, c.421T>A, c.1196delA) and clinical manifestations in patients with mucopolysaccharidosis type IV (MPS IV. The study was conducted at Heevi Tertiary Hospital in Duhok, Iraqi Kurdistan, till the period of September 2024, it involved 10 patients with confirmed MPS IV. Data on demographics, family history, consanguinity, skeletal, intelligence, and genetic mutations were collected. Results showed that mean age at diagnosis of 7.94 years, with females predominating. Consanguinity and family history were common. Short stature, macrocephaly, fatigue, generalized pain, and various skeletal abnormalities such as dysostosis multiplex and others. Hip dysplasia was present in 50% of patients, while intelligence was normal in most. The most frequent genetic mutation was c.860C>T, followed by c.421T>A and c.1196delA. Biochemical and hematological parameters were within normal ranges, but growth retardation was evident. Geographic clustering of mutations was noted, with c.860C>T prevalent in Zakho and c.1196delA exclusive to Akre. In conclusion, the study highlights the severe phenotypic expression associated with these mutations and underscores the influence of consanguinity and regional genetic predispositions. These findings emphasize the need for targeted genetic counseling and population screening programs in high-risk areas.

Without an available vaccine in Kurdistan, Respiratory Syncytial Virus (RSV) infection threatens younger children, burdens the healthcare system and contributes to household expenditure on health. Immunoprophylaxis remains the only preventive option in Kurdistan. Expert pediatricians recommend palivizumab to children at RSV risk; particularly infants (1) born within 29 gestational weeks and 29 gestational weeks) at risk for RSV hospitalization, (3) with congenital lung disease requiring oxygen therapy for >1 month and are <2 years old at RSV season start, and (4) with hemodynamically significant congenital heart disease and acyanotic heart and who are <2 years of age at RSV season start. We call onto health authorities to support palivizumab immunoprophylaxis to all children at risk for RSV.