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BACKGROUND: Cyclic neutropenia is a rare genetic disorder causing the arrest of neutrophil function and is characterized by periodic neutropenia and recurrent infections. Patients with cyclic neutropenia with autosomal dominant, sporadic, and X-linked may have mutations in the ELANE gene, and autosomal recessive cases have homozygous/compound heterozygous variants in the HAX1 gene primarily. OBSERVATION: The authors describe a novel variant in the HAX1 gene, which was detected by next-generation sequencing in an 8-year-old male child who presented with recurrent infections and neutropenia. CONCLUSION: The patient extends the clinical variability associated with HAX1 variants and highlights the importance of genetic investigations in patients with suspected cyclic neutropenia.
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Neutropenia , Reinfecção , Proteínas Adaptadoras de Transdução de Sinal/genética , Criança , Humanos , Masculino , Mutação , Neutropenia/genéticaRESUMO
The study aims to evaluate the long-term outcomes - functional, pulmonary and non-pulmonary (other organs) - in children hospitalized with COVID-19 infection or with Multisystem inflammatory syndrome (MIS-C) after 1-2 y of discharge. All children with moderate or severe COVID-19 or MIS-C were enrolled. Out of 45 enrolled subjects, 19.8% had COVID-19 infection and 82% had MIS-C. Four children (8.9%) had abnormal baseline echocardiography; two each with cardiac dysfunction and coronary dilatation. At baseline, 44% had moderate disability and 24% had mild disability as per Pediatric Cerebral Performance Category (PCPC). On follow-up, only 8.9% (n = 4) had mild and 2.2% (n = 1) had moderate disability as per the PCPC score. One child developed new onset tuberculosis of the bone. None had any pulmonary morbidities. Follow-up echocardiogram was also within normal limits for children with abnormal findings. Further studies in different populations (settings) are required to draw meaningful conclusions about long-term effects of COVID-19 on children.
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BACKGROUND: Modalities to improve tissue acquisition during endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) have been investigated. Endobronchial ultrasound-guided transbronchial mediastinal cryobiopsy (EBUS-TMC) is a modality to obtain larger histological samples by inserting a cryoprobe into the mediastinal lesion. We aimed to study the diagnostic yield and safety of EBUS-TMC. METHODS: We performed a systematic search of the PubMed and Embase databases to extract the relevant studies. We then performed a meta-analysis to calculate the diagnostic yield of EBUS-TMC and compare it with EBUS-TBNA. RESULTS: Following a systematic search, we identified 14 relevant studies (869 patients undergoing EBUS-TMC and EBUS-TBNA). We then performed a meta-analysis of the diagnostic yield of EBUS-TMC and EBUS-TBNA from studies wherein both procedures were performed. The pooled diagnostic yield of EBUS-TMC was 92% (95% confidence interval [CI], 89%-95%). The pooled diagnostic yield of EBUS-TBNA was 81% (95% CI, 77%-85%). The risk difference in yield was 11% (95% CI, 6%-15%, I2 = 0%) when EBUS-TMC and EBUS-TBNA were compared. The only complication reported commonly with EBUS-TMC was minor bleeding. The complication rate was comparable with EBUS-TBNA. CONCLUSION: EBUS-TMC provides a greater diagnostic yield with a similar risk of adverse events compared to EBUS-TBNA. Future studies are required to clearly establish which patients are most likely to benefit from this modality.
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Some individuals exposed to Mycobacterium tuberculosis develop a latent infection and remain at a lifelong risk of developing tuberculosis (TB) disease, a state called as TB infection (TBI). TB preventive treatment (TPT) aims to treat TBI and prevent progression to active TB in an exposed or infected person. Currently, it is not possible to confirm TBI microbiologically, but can be identified indirectly by means of immune-based tests [Tuberculin skin test (TST), interferon-gamma release assays (IGRAs)]. It is crucial to rule out active TB before initiating TPT. TPT regimens have evolved with time. The most widely used regimen is 6 mo of daily Isoniazid (INH) (6H). Another regime in pipeline for persons >2 y, but not yet widely available, is 3HP (3 mo of weekly Isoniazid and Rifapentine). TPT to contacts of drug resistant TB (DR-TB) patients needs to be tailored depending on the resistance pattern in the index case, and relies on a bacteriological confirmation of the same. Individuals receiving TPT should be closely monitored for emergence of any signs or symptoms suggestive of active TB disease while on TPT.
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Dengue is an important public health problem with a wide clinical spectrum. The World Health Organization classifies dengue into probable dengue, dengue with warning signs, and severe dengue. Severe dengue, characterized by plasma leakage, severe bleeding, or organ impairment, entails significant morbidity and mortality if not treated timely. There are no definitive curative medications for dengue; management is supportive. Judicious fluid resuscitation during the critical phase of dengue is the cornerstone of management. Crystalloids are the initial fluid of choice. Prophylactic platelet transfusion is not recommended. Organ involvement in severe dengue should be carefully looked for and managed. Secondary hemophagocytic lymphohistiocytosis is a potentially fatal complication of dengue that needs to be recognized, as specific management with steroids or intravenous immunoglobulin may improve outcomes. Several compounds with anti-dengue potential are being studied; no anti-dengue drug is available so far.
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Dengue Grave , Humanos , Dengue Grave/complicações , Dengue Grave/diagnóstico , Dengue Grave/terapia , Hemorragia/etiologia , Hidratação/efeitos adversos , Imunoglobulinas Intravenosas/uso terapêutico , Organização Mundial da SaúdeRESUMO
Foreign body (FB) aspiration is a potentially life-threatening accident in children. Traditionally, rigid bronchoscopy has been the procedure of choice for FB removal, however it may miss distally lodged FBs. We report two pediatric cases with distal impacted FBs that could not be retrieved by rigid bronchoscopy (RB) and were mobilised using Fogarty balloon followed by flexible bronchoscopic cryoextraction. The advantage of a cryoprobe is lower risk of fragmentation of FB that may occur with forceps. Cryoextraction is particularly advantageous for removing water-containing FBs. In both patients, FB was removed more than 2 weeks following aspiration, leading to the formation of granulation tissue around the FB, which considerably hampered the process. Using a laryngeal mask airway to secure the airway, FB removal by flexible bronchoscopy may be a safe and effective technique in skilled hands, especially for FBs impacted in distal airways with granulation tissue where RB fails.
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Brônquios , Corpos Estranhos , Criança , Humanos , Broncoscopia/métodos , Tecido de Granulação , Corpos Estranhos/cirurgia , Estudos RetrospectivosRESUMO
BACKGROUND: Allergic bronchopulmonary aspergillosis (ABPA) frequently complicates asthma. There is urgent need to develop evidence-based guidelines for the management of ABPA in children. The Evidence Based Guideline Development Group (EBGDG) of the Indian Academy of Pediatrics (IAP) National Respiratory Chapter (NRC) addressed this need. METHODS: The EBGDG shortlisted clinical questions relevant to the management of ABPA in asthma. For each question, the EBGDG undertook a systematic, step-wise evidence search for existing guidelines, followed by systematic reviews, followed by primary research studies. The evidence was collated, critically appraised, and synthesized. The EBGDG worked through the Evidence to Decision (EtD) framework, to formulate recommendations, using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. RESULTS: Seven clinical questions were prioritized, and the following recommendations formulated. (1) Children with poorly controlled asthma should be investigated for ABPA (conditional recommendation, moderate certainty of evidence). (2) Low dose steroid therapy regimen (0.5 mg/kg/d for the first 2 wk, followed by a progressive tapering) is preferable to higher dose regimens (conditional recommendation, very low certainty of evidence). (3) Oral steroid regimens longer than 16 wk (including tapering), should not be used (conditional recommendation, very low certainty of evidence). (4) Antifungals may or may not be added to steroid therapy as the evidence was neither in favour nor against (conditional recommendation, low certainty of evidence). (5) For clinicians using antifungal agents, the EBGDG recommends against using voriconazole instead of itraconazole (conditional recommendation, very low certainty of evidence). (6) No evidence-based recommendation could be framed for using pulse steroid therapy in preference to conventional steroid therapy. (7) Immunotherapy with biologicals including omalizumab or dupilumab is not recommended (conditional recommendation, very low certainty of evidence). CONCLUSIONS: This evidence-based guideline can be used by healthcare providers in diverse clinical settings.
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Aspergilose Broncopulmonar Alérgica , Asma , Criança , Humanos , Adolescente , Aspergilose Broncopulmonar Alérgica/diagnóstico , Aspergilose Broncopulmonar Alérgica/tratamento farmacológico , Asma/complicações , Asma/tratamento farmacológico , Antifúngicos/uso terapêutico , Itraconazol/uso terapêutico , Voriconazol/uso terapêuticoRESUMO
BACKGROUND: Menkes disease is an X-linked neurodegenerative disease caused by mutation in ATP7A gene, which codes for copper-transporting ATPase. It usually presents in early infancy with neuro-regression, hypotonia, seizures, and kinky hair. Magnetic resonance imaging (MRI) of the brain shows cerebral atrophy, subdural effusions, and tortuous cerebral blood vessels. CASE CHARACTERISTICS: We report the case of a 7-month-old boy who presented with global developmental delay, seizures, and increasing head size since 2 months of age and history of sibling death. He had macrocephaly, sparse, hypopigmented hair, seborrheic dermatitis of scalp, hypotonia, and brisk reflexes. Brain MRI was suggestive of megalencephalic leukodystrophy. Careful reexamination of films revealed tortuous blood vessels. Serum copper and ceruloplasmin levels were significantly reduced, leading to diagnosis of Menkes disease. CONCLUSION: This case exemplifies a rare presentation of Menkes disease, simulating a leukodystrophy with macrocephaly. Tortuosity of cerebral blood vessels is an important finding, which can help in differentiating Menkes disease from white matter disorders.
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Single and multiple liver abscesses in Delhi are predominantly amoebic and must be distinguished from pyogenic abscesses which frequently require drainage. Mixed abscesses are larger, harbouring Gram negative rods. Multiple abscesses are not always pyogenic and presence of bacteria does not imply a primary pyogenic source.