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View article: A Rare Presentation of Classical Homocystinuria: Cerebral Thrombophlebitis in an Adolescent
A Rare Presentation of Classical Homocystinuria: Cerebral Thrombophlebitis in an Adolescent Open
Homocystinuria is a rare constitutional aminoacidopathy characterized by elevated plasma and urinary homocysteine levels, most often due to cystathionine beta-synthase (CBS) deficiency, and represents the second most frequent metabolic enc…
View article: Vitamin B12 Deficiency in Infants: Clinical Manifestations, Neurological Consequences, and Therapeutic Management
Vitamin B12 Deficiency in Infants: Clinical Manifestations, Neurological Consequences, and Therapeutic Management Open
Vitamin B12 deficiency is a well-recognised cause of neurodevelopmental disorders and psychomotor regression in pediatric patients. In developed countries, infant B12 deficiency most commonly occurs in exclusively breastfed infants whose m…
View article: Clinical Features of Classical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency with Complete Virilisation
Clinical Features of Classical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency with Complete Virilisation Open
Background: The most prevalent form of Congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency (21-OHD), which accounts for over 90% of CAH cases. This enzymatic defect results in decreased cortisol and aldosterone synthesis, lea…
View article: Juvenile breast hypertrophy: Successful breast reduction with a loss of 16 % of body weight, with no recurrence observed at 2-year follow-up, a rare case report
Juvenile breast hypertrophy: Successful breast reduction with a loss of 16 % of body weight, with no recurrence observed at 2-year follow-up, a rare case report Open
This report aims to share knowledge about this rare case and may also pave the way for further research to understand the underlying mechanisms better and standardize the treatment of juvenile breast hypertrophy.
View article: Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. Open
We previously reported two siblings with inherited PD-1 deficiency who died from autoimmune pneumonitis at 3 and 11 years of age after developing other autoimmune manifestations, including type 1 diabetes (T1D). We report here two siblings…
View article: The role of sex on the prevalence of cardiovascular risk factors in children and adolescents with Type 1 diabetes: The SWEET international database
The role of sex on the prevalence of cardiovascular risk factors in children and adolescents with Type 1 diabetes: The SWEET international database Open
In children and adolescents with T1D, female sex, in addition to HbA1c above 7 %, and older age (>10 years) was associated with a higher risk of having at least a CVRF (LDL-C, BMI-SDS, BP) according to internationally defined cut-offs.
View article: Psychological Care for Children and Adolescents with Diabetes and Patient Outcomes: Results from the International Pediatric Registry SWEET
Psychological Care for Children and Adolescents with Diabetes and Patient Outcomes: Results from the International Pediatric Registry SWEET Open
Background. Easy accessibility of psychosocial care is recommended for children and adolescents with type 1 diabetes (T1D) and their families. Objective. The study aimed to evaluate the availability of psychological care and its associatio…
View article: The COVID-19 Pandemic Affects Seasonality, With Increasing Cases of New-Onset Type 1 Diabetes in Children, From the Worldwide SWEET Registry
The COVID-19 Pandemic Affects Seasonality, With Increasing Cases of New-Onset Type 1 Diabetes in Children, From the Worldwide SWEET Registry Open
OBJECTIVE To analyze whether the coronavirus disease 2019 (COVID-19) pandemic increased the number of cases or impacted seasonality of new-onset type 1 diabetes (T1D) in large pediatric diabetes centers globally. RESEARCH DESIGN AND METHOD…
View article: Children's Diabetic Ketoacidosis and COVID 19: Two Case Reports
Children's Diabetic Ketoacidosis and COVID 19: Two Case Reports Open
Introduction: The current global pandemic due to SARS-CoV-2 has resulted in a large literature on associated comorbidities, including diabetes. COVID 19 infection in a diabetic child can be complicated by severe ketoacidosis. The aim of th…
View article: Sellar Arachnoidocele: An Unusual Evolution in a Case Report
Sellar Arachnoidocele: An Unusual Evolution in a Case Report Open
The sellar archnoidocele is a herniation of the subarachnoid space within the sella turcica which is often associated with a variable degree of flattening of the pituitary. Its clinical presentations range from an asymptomatic radiological…
View article: Long-Term Evolution of Patients with the Wolcott Rallison Syndrome: Case Series of 4 Patients and Review of Literatures
Long-Term Evolution of Patients with the Wolcott Rallison Syndrome: Case Series of 4 Patients and Review of Literatures Open
Introduction: Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal diabetes in consanguineous families. associated with liver dysfunction, epiphyseal dysplasia, and. growth retardation. It is caused by…
View article: Predictors of Good Metabolic Control of Diabetes in Adolescents Social, Epidemiological and Neuropsychological Dimensions
Predictors of Good Metabolic Control of Diabetes in Adolescents Social, Epidemiological and Neuropsychological Dimensions Open
Our study included 60 children with diabetes. We divided them into two groups: Group A and Group B. Patients assigned to Group A had controlled diabetes and formed our “Control Group”, while Group B was for patients with poorly controlled …
View article: Glycemic Outcome Associated With Insulin Pump and Glucose Sensor Use in Children and Adolescents With Type 1 Diabetes. Data From the International Pediatric Registry SWEET
Glycemic Outcome Associated With Insulin Pump and Glucose Sensor Use in Children and Adolescents With Type 1 Diabetes. Data From the International Pediatric Registry SWEET Open
OBJECTIVE This study aims to examine insulin delivery methods, glucose monitoring modalities and related outcomes in a large, international, diverse cohort of children and adolescents with type 1 diabetes from the SWEET-Registry…
View article: Glycemic Outcome Associated With Insulin Pump and Glucose Sensor Use in Children and Adolescents With Type 1 Diabetes. Data From the International Pediatric Registry SWEET
Glycemic Outcome Associated With Insulin Pump and Glucose Sensor Use in Children and Adolescents With Type 1 Diabetes. Data From the International Pediatric Registry SWEET Open
OBJECTIVE This study aims to examine insulin delivery methods, glucose monitoring modalities and related outcomes in a large, international, diverse cohort of children and adolescents with type 1 diabetes from the SWEET-Registry…
View article: Glycemic Outcome Associated With Insulin Pump and Glucose Sensor Use in Children and Adolescents With Type 1 Diabetes. Data From the International Pediatric Registry SWEET
Glycemic Outcome Associated With Insulin Pump and Glucose Sensor Use in Children and Adolescents With Type 1 Diabetes. Data From the International Pediatric Registry SWEET Open
OBJECTIVE This study aims to examine insulin delivery methods, glucose monitoring modalities and related outcomes in a large, international, diverse cohort of children and adolescents with type 1 diabetes from the SWEET-Registry…
View article: Glycemic Outcome Associated With Insulin Pump and Glucose Sensor Use in Children and Adolescents With Type 1 Diabetes. Data From the International Pediatric Registry SWEET
Glycemic Outcome Associated With Insulin Pump and Glucose Sensor Use in Children and Adolescents With Type 1 Diabetes. Data From the International Pediatric Registry SWEET Open
OBJECTIVE Insulin delivery methods, glucose-monitoring modalities, and related outcomes were examined in a large, international, diverse cohort of children and adolescents with type 1 diabetes from the Better Control in Pediatric and Adole…
View article: Growth Delay in Children: Experience of the Department of Metabolic and Endocrine Diseases at the Children's Hospital of Rabat
Growth Delay in Children: Experience of the Department of Metabolic and Endocrine Diseases at the Children's Hospital of Rabat Open
Objective: The aim of our study is to describe the epidemiological, clinical and biological aspects of staturo-ponderal delay and to deduce the main etiologies. Material and Methods: the study was carried out on 141 patients (78 boys and 6…
View article: PRECOCIOUS PUBERTY AND PREMATURE THELARCHE IN GIRLS:
PRECOCIOUS PUBERTY AND PREMATURE THELARCHE IN GIRLS: Open
Introduction: Early puberty is a pathology known by the appearance of clinical signs of puberty before the age of 8 years for girls and 9 years for boys. In 90% of the cases, it’s a Central Precocious Puberty. It could be peripheral too. T…
View article: Erratum. Recessively Inherited <i>LRBA</i> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322
Erratum. Recessively Inherited <i>LRBA</i> Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322 Open
This erratum is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.
View article: Recessively Inherited<i>LRBA</i>Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
Recessively Inherited<i>LRBA</i>Mutations Cause Autoimmunity Presenting as Neonatal Diabetes Open
Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients’ prognosis an…