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International Journal of Neonatal... Jun 2021Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn...
Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn screening (NBS). In Mongolia, a regional screening program for CH was launched in 2000, which was supported by the International Atomic Energy Agency (IAEA) for the Asia Pacific Region. In our present study, a total of 23,002 newborns from nine districts in Ulaanbaatar were screened between 2012 and 2020, by the measurement of the thyroid-stimulating hormone (TSH) from dried blood spots, sampled 24 to 72 h after birth. The level of TSH was measured by the DELFIA assay. The overall CH prevalence confirmed at birth was 1/2091. The female-to-male ratio for CH cases was 1.8:1. The majority of patients were asymptomatic (72.7% of CH cases); umbilical hernia and cold or mottled skin were reported symptoms in patients with CH (27.3%). Thyroid dysgenesis (hypoplasia and agenesis) was the most common etiology, with a total of nine cases (81.8%) out of the eleven patients. The lapse between the birth date and the initiation of L-thyroxine treatment in CH-positive children was lower than 15 days in 63.64% of cases or 15 to 30 days in 36.36% of children. Further research is required to expand the screening coverage for CH in Mongolia.
PubMed: 34200138
DOI: 10.3390/ijns7020029 -
Journal of Pediatric Genetics Mar 2022Gangliosidoses are progressive neurodegenerative disorders caused by the deficiency of enzymes involved in the breakdown of glycosphingolipids. There are not much data...
Gangliosidoses are progressive neurodegenerative disorders caused by the deficiency of enzymes involved in the breakdown of glycosphingolipids. There are not much data about gangliosidosis in India; hence, this study was planned. The aim is to study the clinical, biochemical, and molecular profile of gangliosidosis. A retrospective chart review, in the pediatric neurology department from January 2015 to March 2020, was performed. Children diagnosed with Gangliosidosis were included. The disorder was confirmed by reduced activity of enzymes and/or pathogenic or likely pathogenic variants in associated genes. We assessed age at presentation, gender, parental consanguinity, clinical manifestations, neuroimaging findings, enzyme level, and pathogenic or likely pathogenic variants. Clinical data for 32 children with gangliosidosis were analyzed, which included 12 (37.5%) with GM1 gangliosidosis, 8 (25%) with Tay-Sachs disease (TSD), 11 (34.37%) with Sandhoff disease (SD), and 1 AB variant of GM2 gangliosidosis that occurs due to GM2 ganglioside activator protein deficiency. Twenty-four (75%) children were the offspring of consanguineous parents. Thirty-one (97%) had developmental delay. The median age at presentation was 15.5 months. Nine (28.12%) had seizures. Five children (41.6%) with GM1 gangliosidosis and two with SD had extensive Mongolian spots. Ten children with GM1 gangliosidosis (83.3%) had coarse facial features. Cherry red spot was found in 24 out of 32 children (75%). All children with GM1 gangliosidosis and none with TSD had hepato-splenomegaly. Two children (2/8; 25%) with TSD and seven (7/11; 63%) with SD had microcephaly. One child with SD had coarse facies and three did not have hepato-splenomegaly. Neuroimaging findings revealed bilateral thalamic involvement in 20 (62.5%) patients and periventricular hypomyelination in all cases. One child had a rare AB variant of GM2 gangliosidosis. GM2 Gangliosidoses are more common compared with GM1 variety. All of them had infantile onset except one child with TSD. Microcephaly can be present while usually megalencephaly is reported in the literature. The absence of hepato-splenomegaly does not rule out SD. Extensive Mongolian spots can be seen in GM2 gangliosidosis. AB variant of GM2 gangliosidosis should be considered when the enzyme is normal in the presence of strong clinical suspicion.
PubMed: 35186388
DOI: 10.1055/s-0040-1718726 -
Ugeskrift For Laeger Sep 2020Blue naevus is a rare lesion on genital mucosa and may cause confusion in differential diagnosis with other pigmented lesions. In this case report, a 39-year-old man...
Blue naevus is a rare lesion on genital mucosa and may cause confusion in differential diagnosis with other pigmented lesions. In this case report, a 39-year-old man presented with a sudden onset in adulthood of blue naevus on the glans penis. A biopsy confirmed the diagnosis. Due to the unusual presentation, the onset and the risk of turning invasive, a careful examination was performed in order to minimise any risk of misclassification with melanoma. Afterwards, the patient was followed in a dermatologic department every six months. To our knowledge, only few similar cases have been described in literature.
Topics: Adult; Diagnosis, Differential; Humans; Male; Melanoma; Mongolian Spot; Nevus, Blue; Penis; Skin Neoplasms
PubMed: 33000740
DOI: No ID Found -
BioMed Research International 2020Worldwide interest in the use of functional foods containing probiotic bacteria such as and for health promotion and disease prevention has increased significantly....
Worldwide interest in the use of functional foods containing probiotic bacteria such as and for health promotion and disease prevention has increased significantly. Probiotics have demonstrated beneficial properties including strengthening the body's natural defense system, inhibiting the growth of pathogenic bacteria, and regulating mental activity, but their effects on the human vagina have not been fully elucidated. The primary purpose of our study was to isolate strains from old yogurt, a traditional dairy product, and investigate their probiotic potential with respect to the human vaginal system. Four () strains, named ZX1, ZX2, ZX27, and ZX69, were isolated from the yogurt samples. Simultaneously, we used a commercial strain ( DM8909) as a control strain. We tested the antimicrobial activity of isolates against and by agar spot and well diffusion tests. Then, we tested the antibiotic susceptibility of the 5 strains by using the minimal inhibitory concentration method. We attempted to detect possible bacteriocin genes by PCR sequencing technique. Using a chemically defined medium simulating genital tract secretions, we found that the selected strains could alter the expression of known virulence genes in Bacteriocins derived from these isolated strains had potent antibacterial activity against . and . , with the most effective activity observed in the case of ZX27. In addition, all strains including the . DM8909 were positive for the presence of the plantaricin cluster of genes described in . C11. The tested stains possessed the gene indicating that one of the antibacterial agents was plantaricin. We assume that the production of antimicrobial substances such as bacteriocins induce to upregulate antimicrobial resistance genes. The new isolated strains have bacteriocin-related genes and can change the antimicrobial resistance gene transcription of . .
Topics: Anti-Bacterial Agents; Bacteriocins; Escherichia coli; Female; Gardnerella vaginalis; Humans; Lactobacillus; Yogurt
PubMed: 32382546
DOI: 10.1155/2020/3548618 -
International Journal of Legal Medicine May 2020Mongolian spots (MS) are congenital dermal conditions resulting from neural crest-derived melanocytes migration to the skin during embryogenesis. MS incidences are...
Mongolian spots (MS) are congenital dermal conditions resulting from neural crest-derived melanocytes migration to the skin during embryogenesis. MS incidences are highly variable in different populations. Morphologically, MS present as hyperpigmented maculae of varying size and form, ranging from round spots of 1 cm in diameter to extensive discolorations covering predominantly the lower back and buttocks. Due to their coloring, which is also dependent on the skin type, MS may mimic hematoma thus posing a challenge on the physician conducting examinations of children in cases of suspected child abuse. In the present study, MS incidences and distribution, as well as skin types, were documented in a collective of 253 children examined on the basis of suspected child abuse. From these data, a classification scheme was derived to document MS and to help identify cases with a need for recurrent examination for unambiguous interpretation of initial findings alongside the main decisive factors for re-examination such as general circumstances of the initial examination (e. g., experience of the examiner, lighting conditions) and given dermatological conditions of the patient (e. g., diaper rash).
Topics: Adolescent; Age Distribution; Child; Child Abuse; Child, Preschool; Ethnicity; Female; Humans; Incidence; Infant; Male; Mongolian Spot; Physical Examination; Prospective Studies; Skin Neoplasms
PubMed: 32166386
DOI: 10.1007/s00414-019-02208-9 -
Asian/Pacific Island Nursing Journal 2020In Mongolia, cardiovascular disease is the leading cause of death, and prevalence of hypertension is very high. The aim of this study was to investigate the association...
In Mongolia, cardiovascular disease is the leading cause of death, and prevalence of hypertension is very high. The aim of this study was to investigate the association between hypertension and sociodemographic factors and health-related behaviors among men in Darkhan-Uul Province, Mongolia. This cross-sectional study was conducted between November 2015 and January 2016. Men whose wives were pregnant with ≤ 20 weeks gestation and had attended antenatal health checkups at public health facilities were recruited in this study. The data were collected as part of a survey of pregnant women and their partners. Data were collected using self-administered questionnaires, anthropometry, and spot urine samples. A total of 224 men participated in the survey, and data from 209 participants were included in the analysis. Multiple logistic regression analysis showed that men with higher BMI had higher odds of hypertension than those with lower BMI (adjusted odds ratio [AOR]: 1.14, 95% CI: 1.03-1.26). Those with urinary cotinine > 100 ng/ml (smokers) had a lower risk of hypertension (AOR: 0.24, 95% CI: 0.09-0.67) compared to participants with urinary cotinine/ml (nonsmokers). This is the first study to investigate the association between hypertension and sociodemographic factors and health-related behaviors among men in Mongolia. Based on the findings of this study, clinicians responsible for public health in Mongolia should provide health education regarding the importance of weight control in preventing hypertension.
PubMed: 32055683
DOI: 10.31372/20190404.1067 -
Medicine Aug 2018Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary malformation and pigmentary nevus. Congenital chylous ascites (CCA) is also a rare...
RATIONALE
Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary malformation and pigmentary nevus. Congenital chylous ascites (CCA) is also a rare disease that results from maldevelopment of the lymphatic system. We report a case of a 5-month-old girl, who had both PPV and CCA.
PATIENT CONCERNS
A 5-month-old girl is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot with congenital chylous ascites.
DIAGNOSES
The expression of extensive nevus flammeus and an aberrant Mongolian spot with congenital chylous ascites, that was diagnosed as type IIb phacomatosis pigmentovascularis.
INTERVENTIONS
Conservative treatment included administration of somatostatin, MCT-based diet or TPN with drainage of ascitic fluid. Surgery was taken into account after failed conservative treatments. Before surgery, it is necessary to locate the abnormal lymphatic vessels.
OUTCOMES
Conservative treatment and surgery sometimes functioned limitedly on CCA.
LESSONS
According to the classification system of ISSVA (the International Society for the Study of Vascular Anomalies), this case meet the classification of CLM included in combined vascular malformations. It is likely to there is a connection between these two congenital diseases.
Topics: Chylous Ascites; Female; Humans; Infant; Mongolian Spot; Neurocutaneous Syndromes; Skin Neoplasms
PubMed: 30142845
DOI: 10.1097/MD.0000000000012012 -
BMJ Case Reports Jul 2018
Topics: Brain; Humans; Infant; Lumbosacral Region; Magnetic Resonance Imaging; Male; Mongolian Spot; Sandhoff Disease
PubMed: 30061129
DOI: 10.1136/bcr-2018-225013 -
Indian Journal of Dermatology,... 2018
Topics: Buttocks; Cafe-au-Lait Spots; Female; Humans; Infant; Mongolian Spot; Neurocutaneous Syndromes
PubMed: 29770784
DOI: 10.4103/ijdvl.IJDVL_383_17