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  1. 30681
    “…Case Report. A 7-year-old girl, previously treated for a pelvic plexiform neurofibroma, arrived at our observation with a peculiar MEN2B syndrome and with HPTH. …”
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    A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion
  2. 30682
    “…CASE PRESENTATION: Here, we present clinical and molecular findings in a 9-year-old girl with CIPA. The high-altitude indigenous Ecuadorian patient presented several health problems such as anhidrosis, bone fractures, self-mutilation, osteochondroma, intellectual disability and Riga-Fede disease. …”
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    Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report
  3. 30683
    “…CASE PRESENTATION: In light of these observations, we decided to search for a systemic cherubism phenotype in a 6-year-old girl with an aggressive cherubism. We report here the first case of cherubism with systemic manifestations. …”
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    Cherubism as a systemic skeletal disease: evidence from an aggressive case
  4. 30684
    “…CASE REPORT: An 11-year-old skeletally immature girl presented to us two 2 years back with pain and swelling over the right forearm without any restriction of moments and other constitutional symptoms. …”
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    Recurrent Non-Ossifying Fibroma in Shaft of Distal Radius– A Rare Case
  5. 30685
    “…High-frequency oscillatory ventilation is relatively contraindicated because it may cause hyperinflation compared to conventional mechanical ventilation. A 2-year-old girl (weight, 11 kg) with a history of asthma was admitted because of status asthmaticus. …”
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    High-frequency oscillatory ventilation as a rescue for severe asthma crisis in a child
  6. 30686
    “…CASE PRESENTATION: A 4-year-5-month old girl presented with intractable anemia since 1-year-3-month. …”
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    Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report
  7. 30687
    “…We investigated the genetic causes of MWS in a 14‐year‐old girl who had characteristic features of MWS. METHODS: Clinical data and peripheral blood DNA samples were collected from the proband. …”
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    A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat‐Wilson syndrome
  8. 30688
    “…PATIENT CONCERNS: An 8-year-old girl admitted for 7 days history of wet cough, purulent fetid sputum, shortness of breath and low-grade fever. …”
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    Bronchiectasis with secondary pulmonary infection in a child: A case report
  9. 30689
    “…A 13-year-old Japanese girl presented with fever and cough, and after 2 days, her olfactory and taste sensations suddenly disappeared. …”
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    Severe olfactory and gustatory dysfunctions in a Japanese pediatric patient with coronavirus disease (COVID-19)
  10. 30690
    “…Here, we report a case of SEDH with recurrences, along with a literature review of relevant cases to identify characteristics of SEDH recurrence. A 13-year-old girl experienced sudden-onset of back pain and bilateral leg weakness. …”
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    Recurrent Cervical Spinal Epidural Hematoma: Case Report and Literature Review
  11. 30691
    “…In this report, we describe a previously healthy 5-year-old girl with a renal abscess caused by extended-spectrum β-lactamase (ESBL)-producing Escherichia coli (E. coli), which led to bacteremia and renal scarring. …”
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    Renal abscess with bacteremia caused by extended-spectrum β-lactamase-producing Escherichia coli: a case report
  12. 30692
    “…Hepatocytes were isolated from a liver of 4-year-old girl with biliary atresia and immortalized by inoculation with CSII-CMV-TERT, CSII-CMV-Tet-Off, CSII-TRE-Tight-cyclin D1 and CSII-TRE-Tight-CDK4(R24C) (mutant CDK4: an INK4a-resistant form of CDK4) lentiviruses at the multiplicity of infection of 3 to 10. …”
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    Immortalization of human hepatocytes from biliary atresia with CDK4(R24C), cyclin D1, and TERT for cytochrome P450 induction testing
  13. 30693
    por Bae, Jaewoan, Choe, Byung-Ho, Kang, Ben
    Publicado 2020
    “…We report a case of a 12-year-old Korean girl with Crohn’s disease (CD), in whom thiopurine-induced leukopenia was prevented by initiation of azathioprine (AZA) therapy at a low dose (0.5 mg/kg/day) and early detection of significant hair loss and white blood cell (WBC) count decrease at 17 days from the start of AZA treatment. …”
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    Prevention of thiopurine-induced early leukopenia in a Korean pediatric patient with Crohn’s disease who turned out to possess homozygous mutations in NUDT15 R139C
  14. 30694
    “…Results: We reported a 17-month-old girl with intellectual disability, speech impairment, and delay in motor development. …”
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    Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities
  15. 30695
    “…Diagnosis was made by whole exome sequencing and revealed compound heterozygosity for the frameshift variant c.852_855del, p.Met285Profs*2 and a novel deletion c.(69 + 1_70–1)_(212 + 1_231–1)del in SLC25A13. The girl responded well to dietary treatment with a lactose-free, MCT-enriched formula. …”
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    Citrin deficiency mimicking mitochondrial depletion syndrome
  16. 30696
    “…METHODS: The clinical and genetic features of an 8‐months‐old girl with HMGCSD were evaluated. Molecular genetic testing was conducted using whole‐exome sequencing (WES) in order to identify potential disease‐causing mutation. …”
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    Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient
  17. 30697
    “…Here we describe the first recognized and diagnosed case of DOCK8 deficiency in the Philippines. A 14 year-old-girl was referred due to recalcitrant atopic dermatitis, recurrent sinopulmonary infections, with widespread warts on the face, trunk and extremities. …”
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    Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines
  18. 30698
    “…CASE SUMMARY: The patient, a 17-year-old girl without previous medical history, was presented at the emergency room and complained of abdominal and back pain. …”
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    Robot-assisted laparoscopic pyeloureterostomy for ureteropelvic junction rupture sustained in a traffic accident: A case report
  19. 30699
    “…We report a case of a 13-year-old girl diagnosed with DDD at 9 years of age, with nephritic and nephrotic syndrome and C3 nephritic factor-negative alternative complement pathway activation. …”
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    Eculizumab for pediatric dense deposit disease: A case report and literature review
  20. 30700
    “…Severe acute respiratory distress syndrome coronavirus 2 (SARS-CoV-2) is associated with multisystem inflammatory syndrome in children (MIS-C) that ranges from mild symptoms to cardiopulmonary collapse. A 5-year-old girl presented with shock and a rapid decline in left ventricular function requiring intubation. …”
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    Extracorporeal Membrane Oxygenation for COVID-19-Associated Multisystem Inflammatory Syndrome in a 5-year-old
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