Patterns of self-reported recovery from chemosensory dysfunction following SARS-CoV-2 infection: insights after 1 year of the pandemic.

BACKGROUND: The coronavirus disease (COVID-19), due to the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), causes chemosensory dysfunction. AIMS/OBJECTIVES: To determine the characteristics of chemosensory dysfunction and to identify factors associated with chemosensory complete recovery and time to recovery. MATERIALS AND METHODS: This cross-sectional study included all patients presenting with chemosensory dysfunction and confirmed SARS-CoV-2 infection from May to August 2020 who underwent telemedicine follow-up after 1 year to assess their chemosensory recovery. RESULTS: A total of 372 patients were included, of which 53.8% were male. The mean age ± SD was 37.45 ± 13.44. The majority experienced combined (olfactory and gustatory) dysfunction (85.7%), and 315 patients (84.7%) had complete loss of chemosensory function. The independent predictors associated with a low likelihood of complete recovery were parosmia (aOR 0.16, p < .001), upper respiratory tract symptoms (aOR 0.28, p = .001), and dyspnoea (aOR 0.21, p < .001), whereas the factors associated with a long recovery period were parosmia (aOR 12.04, p = .002), headache (aOR 7.19, p = .007), and hypertension (aOR 7.76, p = .039). CONCLUSIONS: A full recovery outcome was predominant. The presence of parosmia was linked to both an incomplete recovery and a long time to recovery. SIGNIFICANCE: Parosmia and respiratory symptoms are implicated in the incomplete recuperation of chemosensory function.

Natural Killer Cell Deficiency in Neuroblastoma Amplified Sequence Gene Mutation.

Natural killer cell deficiency (NKD) occurs when decreased levels of such cells lead to major immunological deficiency in the patient. NK cells participate in tumor cell surveillance, viral infections, and immunoregulation in the body. We report a case of a nine-year-old female child, a known case of neuroblastoma amplified sequence (NBAS) gene mutation in the variant c.2819A>C (p. His940Pro), which causes infantile liver failure syndrome type 2 (ILFS2). The patient had been treated at four years of age for a three-day history of vesicular skin rashes in the L2 dermatome of the left leg, with pain and without swelling or redness, ear discharge, low appetite, and decreased activity. Also, she had already had multiple admissions due to different types of infections like viral hepatitis, urinary tract infection, Salmonella bacteremia, gastroenteritis, recurrent hepatitis, follicular tonsilitis, pneumonia, mastoiditis, and varicella-zoster infection. Flow cytometry revealed low levels of CD56+ and CD16+ (2%). Recently, she has shown improvement by gaining weight and appetite following interferon-beta 1a injection.

A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.

Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease characterized by severe early onset diarrhea, woolly and brittle hair, immunodeficiency, and liver disease. A mutation in either SKIV2L or TTC37 genes can cause the disease. We report a case of a 41-month-old girl who suffered from intractable watery diarrhea, hair abnormality, dysmorphic features, and poor weight gain. The diagnosis was made through whole-exome sequencing analysis. The analysis detected a new variant mutation (c.1201G > A) p. (Glu401Lys) in the SKIV2L gene. She was admitted once for poor weight gain and nasogastric tube (NGT) feeding, with which the patient showed improvement. She was discharged to go home on hypoallergenic baby formulas and a regular diet with improved weight gain.