ABSTRACT
Background & objectives: Haemophilia is a debilitating bleeding disorder with significant comorbidities affecting the quality of life. In India, the management of these individuals is still limited to on-demand institutional treatment with coagulant factors. In this study, we highlighted the problems faced by these patients in the COVID-19 period due to nationwide lockdown. Methods: A retrospective study was done to ascertain the trend in the number of patients with haemophilia A and B visiting the hospital, those succumbing to haemophilic complications and indications for factor requirement in the pre-COVID (October 2019-March 2020) and during the COVID-19 period (April-September 2020). Representative cases with unusual complications were described along with significant challenges faced in providing standard care of treatment to these individuals due to the COVID-19 pandemic. Results: A total of 818 and 162 individuals with haemophilia A and B, respectively, were registered with the department. The overall number of patient visits to the hospital significantly reduced from an average of 6.9 outpatient department (OPD) visits per patient in the pre-COVID-19 period to an average of 3.9 OPD visits per patient and admissions reduced to 50 per cent during the COVID-19 period. This led to a reduction in utilization of factors VIII and IX except VIIa for haemophilia with inhibitors. There was no factor utilization for elective surgeries during the COVID-19 period. A total of eight patients succumbed to haemophilia-related complications during the COVID-19 period due to delay in reaching the hospital. The challenges faced in the management of three cases with musculoskeletal bleeds, one case with scrotal haematoma and one with haemothorax during the COVID-19 period were also highlighted. Interpretation & conclusions: COVID-19 pandemic has unveiled the need for on-demand home treatment with coagulant factors and has also brought to light the existing need for primary prophylaxis, especially for younger individuals with haemophilia.
ABSTRACT
Congenital hyperinsulinemia (CHI) is a genetically and clinically heterogenous disorder. In addition to the standard care of management of the proband, genetic counseling regarding the risk of recurrence in the future siblings is an important part in the management of the disorder. The counseling needs identifcation of accurate etiology and is challenging due to the complexity of the molecular mechanisms of CHI. This case highlights the importance of molecular testing which not only helped in planning the management of the proband with CHI but also helped in providing genetic counseling for which the family had consulted the medical genetics department.
ABSTRACT
Background: Maternal urinary iodine concentration (MUIC) andpercentage of neonates with Thyroid stimulating hormone (TSH)>5 mIU/L are amongst the parameters suggested for assessingadequate iodine status.Objective: To assess the correlation between MUIC andneonatal TSH levels.Study design: Cross-sectional.Settings: Tertiary care center in Delhi, India, between November2015 to November 2016.Participants: Postnatal mother-neonate dyads.Methods: TSH levels assessed among neonatal samples werestratified as below and above 5 mIU/L. MUIC was measured in544 mothers, 400 mother-neonate dyads with neonatal TSHlevels >5 mIU/L (cases) and 144 mother-neonate newbornmother dyads with neonatal TSH <5 mIU/L (controls).Results: The percentage of mothers with iodine insufficiency(9.8% vs 5.6%) as well as iodine excess (54.3% vs 41.7%) weresignificant higher in cases than controls. Mean TSH was alsohigher (P=0.0002) in both the iodine deficient and iodine excessgroup. There was no correlation between neonatal TSH valuesand MUIC.Conclusions: Lack of correlation between neonatal TSH andMUIC is due to iodine excess together with iodine deficiency.