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  1. 32221
    “…RESULTS: We present a case of a 2-year-old girl who was diagnosed with idiopathic thrombocytopenic purpura (ITP) and SLE. …”
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    Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus
  2. 32222
    “…A 2,5-year-old girl presented vomiting episodes associated with severe motor delay, macrocephaly, and distal hypotonia. …”
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    NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma
  3. 32223
    “…RESULTS: From the 49 pediatric patients [boy/girl: 23/26, the average age of diagnosis: 6.7 years (min: 0-max: 18.84)], the majority (36/49, 73%) was diagnosed as the result of family screening. …”
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    Diagnosing Pediatric Patients With Hereditary C1-Inhibitor Deficiency—Experience From the Hungarian Angioedema Center of Reference and Excellence
  4. 32224
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    Lessons from implementing the Australian National Action Plan for Endometriosis
  5. 32225
    “…METHODS: We performed whole exome sequencing in a 12-year-old girl with non-syndromic DCM and her unaffected parents. …”
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    Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy
  6. 32226
    “…CASE REPORT: A twelve-year-old girl was referred to our Pediatric department for polyarthralgia, asthenia and anorexia developing over the previous 4–6 months. …”
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    49 Autoimmune hemolytic anemia revealing a familial systemic lupus erythematosus
  7. 32227
    “…The second case is a 5-year-old girl who presented with 3-year history of inability to walk. …”
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    80 Case series of juvenile scleroderma at Aga Khan University Hospital, Nairobi
  8. 32228
    “…OBSERVATION: We report the case of an early-onset anti-MDA 5 JDM in a 27-month-old girl. The first symptoms appeared at the age of 18 months and consisted of a skin rash and muscle weakness complicated 6 months later by generalized oedema. …”
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    82 Juvenile dermatomyositis with early-onset anti-MDA 5 antibodies: a case report
  9. 32229
    “…METHODS: The cohort included 14 children with IHH (6 patients of KS and 8 patients of IHH), including 13 boys and 1 girl. Exclusion criteria are as follows: diagnosis of secondary hypogonadotropin hypogonadism due to tumor, trauma, drugs, or other systemic diseases. …”
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    The Clinical and Genetic Characteristics in Children with Idiopathic Hypogonadotropin Hypogonadism
  10. 32230
    Publicado 2022
    “…This panel discussion is a collaboration between the EUPHA Working Group on gender equality and women's and girl's empowerment, the Policy and Practice section and EUPHAnxt, and is for any conference participant that is committed to reducing the gender gap in public health. …”
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    8.L. Round table: Breaking the barriers: gender equality and women empowerment in public health practice
  11. 32231
    “…RESULTS: A 17 year-old girl who had long standing oral ulcers and developed IBD, requiring systemic steroid and regular granulocyte colony-stimulating factor (GCSF) therapy and an 8 year-old boy who had steady non healing oral lesions were treated with empagliflozin during 18–24 months. …”
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    Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients
  12. 32232
    “…This study was a crossover case study. The subject, a girl aged 12 years old, received NALL at a dose of 3 g/day (1 g in the morning, 1 g in the afternoon, and 1 g in the evening). …”
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    The Effects of N-Acetyl-L-Leucine on the Improvement of Symptoms in a Patient with Multiple Sulfatase Deficiency
  13. 32233
    “…Among them, 11 cases with VP shunt-associated meningitis and 15 cases with other infections were excluded. Girl ratio was 44%. Median age was 4.5 months old (IQR 8-40). …”
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    2144. Duration of perioperative antibiotic prophylaxis in ventriculoperitoneal shunt surgery in children
  14. 32234
    “…We report a case of a previously healthy 2-year-old girl who presented with a right supraorbital swelling with no associated lymphadenopathy. …”
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    Case Report: Pediatric myeloid/lymphoid neoplasm with eosinophilia and PDGFRA rearrangement: The first case presenting as B-lymphoblastic lymphoma
  15. 32235
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    Protocol for the ORION trial (RadiO fRequency ablatION for haemorrhoids): a randomised controlled trial
  16. 32236
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    Guideline for the Surgical Management of Locally Invasive Differentiated Thyroid Cancer From the Korean Society of Head and Neck Surgery
  17. 32237
    “…CASE REPORT: We present a 4-year-old girl with sJIA complicated by recurrent MAS and progressive interstitial lung disease. …”
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    Case report: Emapalumab for active disease control prior to hematopoietic stem cell transplantation in refractory systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
  18. 32238
    “…CASE PRESENTATION: The six-year-old girl underwent a human leucocyte antigen (HLA) haploidentical hematopoietic stem cell transplant using post-transplant Cyclophosphamide for severe aplastic anemia. …”
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    Narsoplimab for severe transplant-associated thrombotic microangiopathy
  19. 32239
    “…CASE-DIAGNOSIS/TREATMENT: A 12-year-old girl was assessed for a mild elevation of serum creatinine detected during the evaluation of systemic manifestations including asthenia, anorexia, abdominal pain, vomiting, and weight loss. …”
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    Tubulointerstitial nephritis and uveitis syndrome and SARS-CoV-2 infection in an adolescent: just a coincidence in time?
  20. 32240
    “…A single embryo transfer produced a clinical pregnancy, which was confirmed as unaffected by amniocentesis and long-range PCR, and a healthy baby girl was delivered at term. CONCLUSION: Robust and reliable PGT-M of HEMA, including the common F8 Inv22 pathogenic variant, can be achieved with sufficient informative intragenic and flanking markers. …”
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    Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A using a highly polymorphic multi-marker panel encompassing the paracentric inversion
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