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  1. 31841
    “…CASE PRESENTATION: We report the case of a girl with celiac disease who subsequently developed IgE-mediated hypersensitivity to wheat. …”
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    IgE-Mediated allergy to wheat in a child with celiac disease – a case report
  2. 31842
    “…Impaired DHEA sulfation is thought to increase the conversion of DHEA toward active androgens, a proposition supported by the previous report of a girl with inactivating PAPSS2 mutations who presented with low serum DHEA sulfate and androgen excess, clinically manifesting with premature pubarche and early-onset polycystic ovary syndrome. …”
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    PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations
  3. 31843
    “…RESULTS: A 22 month old girl presented with severe developmental delay, congenital cerebral dysplasia and congenital heart disease consistent with phenotypes associated with T9 mosaicism syndrome. …”
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    Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis
  4. 31844
    “…To the best of our knowledge, duplication of chromosome 3p26.3, including only the CHL1 gene, has been described in only one intellectually disabled girl with epilepsy. The duplication described here is the smallest reported so far. …”
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    De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes
  5. 31845
    “…Postoperatively, after a period of progressive rectal dilatation colostomy was closed. Girl is now 6 years old, dry day and night without residual urine and normal upper tracts. …”
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    Cloacal reconstruction after a complex treatment of perineal haemangioma in a variant of PELVIS syndrome
  6. 31846
    “…CASE PRESENTATION: We report a case of subependymal giant cell astrocytoma in a 10-year-old white girl, who had no clinical symptoms of tuberous sclerosis. …”
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    Subependymal giant cell astrocytoma (SEGA): a case report and review of the literature
  7. 31847
    “…CASE PRESENTATION: Here, we report on a 10-years-old girl referred to our genetics clinic due to intellectual disability, attention deficit, behavioral and speech delay, hypotonia, facial dysmorphisms, eye anomalies and congenital malformations. …”
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    Clinical and molecular characterization of a de novo 19p13.3 microdeletion
  8. 31848
    “…CASE PRESENTATION: A 27-month-old girl with a 1-week history of vomiting with mild intermittent strabismus underwent Magnetic Resonance Imaging, showing diffuse brainstem and spinal leptomeningeal enhancement. …”
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    NRAS(Q61K) mutated primary leptomeningeal melanoma in a child: case presentation and discussion on clinical and diagnostic implications
  9. 31849
    “…CASE PRESENTATION: We present an 11-year-old girl with chemotherapy-induced myocarditis requiring extracorporeal cardiorespiratory support. …”
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    Pediatric cardiorespiratory failure successfully managed with venoarterial-venous extracorporeal membrane oxygenation: a case report
  10. 31850
    “…Sirolimus, an mTOR inhibitor, has reportedly been successful in treating children with severe diffuse HH, thus obviating the need for pancreatectomy. We report a girl with HH, with a novel heterozygous ABCC8 gene missense mutation (c.4154A>T/ p.Lys1385Thr), who was initially responsive to diazoxide therapy. …”
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    Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia
  11. 31851
    “…We combined findings using fixed- and random-effects models. A 13-year-old girl was admitted to the hospital due to fever. She has a urinary retention. …”
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    Post-dengue acute disseminated encephalomyelitis: A case report and meta-analysis
  12. 31852
    “…At day 7, both thin blood smears examination remained negative but at day 28, thin blood smear was positive for P. malariae trophozoites and for Plasmodium ovale for the girl and her brother, respectively. Samples collected at day 1 and day 28 were submitted to real-time PCR showing the presence of the three parasite species (P. falciparum, P malariae and P. ovale) in admission blood samples from the two children and only P. ovale at day 28. …”
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    Cryptic Plasmodium ovale concurrent with mixed Plasmodium falciparum and Plasmodium malariae infection in two children from Central African Republic
  13. 31853
    “…A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. …”
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    Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports
  14. 31854
    “…CASE PRESENTATION: An 81-day-old girl presented with acute abdominal distress due to bilious peritonitis caused by biliary cyst perforation, for which she underwent emergency biliary drainage. …”
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    Obliterative cholangiopathy in acquired cystic biliary atresia type III after cyst perforation: a case report
  15. 31855
    “…A choledochocystectomy was safely carried out for a girl at our hospital, and without any complication. …”
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    Robotic-assisted surgery for pediatric choledochal cyst: Case report and literature review
  16. 31856
    “…METHODS: A sample of 8530 Canadian youth (50% girl) aged 8.0 to 12.9 years participated in the study. …”
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    A cross-sectional study exploring the relationship between age, gender, and physical measures with adequacy in and predilection for physical activity
  17. 31857
    “…CASE PRESENTATION: Case 1: A 12-year-old girl presented with Ewing sarcoma of the left pelvis (PI-II). …”
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    The usefulness of wide excision assisted by a computer navigation system and reconstruction using a frozen bone autograft for malignant acetabular bone tumors: a report of two cases
  18. 31858
    “…CASE PRESENTATION: We present a girl with clinical suspicion of SRS (intrauterine and postnatal growth retardation, prominent forehead, triangular face, mild psychomotor delay, transient neonatal hypoglycemia, mild hypotonia and single umbilical artery). …”
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    Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
  19. 31859
    “…CASE PRESENTATION: We report a rare case of a unicornuate right uterus with rudimentary non-communicating (functional) cavitary left horn (class U4a) in a 17-year-old girl who was diagnosed with VACTERL association. …”
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    Unicornuate uterus with a rudimentary non-communicating cavitary horn in association with VACTERL association: case report
  20. 31860
    “…CONCLUSIONS: This study showed individual- and community-level factors determined childhood stunting in Ethiopian children. Promotion of girl education, improving the economic status of households, improving maternal nutrition, improving age-specific child feeding practices, nutritional care of low birth weight babies, promotion of context-specific child feeding practices and narrowing rural-urban disparities are recommended.…”
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    Determinants of stunting among under-five children in Ethiopia: a multilevel mixed-effects analysis of 2016 Ethiopian demographic and health survey data
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