New Emirates Medical Journal - Volume 4, Issue 2, 2023

Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder that presents with lactic acidemia and neurological manifestations. It is a very rare genetic disorder, a potentially life-threatening one with the usual presentation of hypotonia, lethargy, and developmental delay. It is commonly associated with structural brain abnormalities. We report a very rare case of transient severe symptomatic hypoglycaemia probably due to pyruvate dehydrogenase E3 deficiency; a component of pyruvate dehydrogenase complex (PDC).

Our patient is a 12-day-old neonate presenting with lethargy, vomiting with severe symptomatic hypoglycaemia; a critical sample suggestive of hyperinsulinism and raised lactate levels. A TMS-GCMS for metabolic abnormality screening was normal, however, a whole genome sequencing (nuclear + mitochondrial) revealed heterozygous missense variants (c.763A>C) in exon 9 of the DLD gene that results in the amino acid substitution from Methionine to Leucine at codon 255 (p.Met255Leu) and another heterozygous mutation of heterozygous missense variant (c.5277A>T) in exon 34 of the LAMB1 gene that results in the amino acid substitution from Glutamine to Histidine at codon 1759 (p.Gln1759His).

There is no effective treatment for PDCD but reports of treatment with supplements like thiamine, biotin, and coenzyme Q may play a role in preventing the severity of the disease.

Attention-deficit/ hyperactivity disorder (ADHD) is a neurodevelopmental disorder that starts during childhood. It is commonly associated with elevated levels of parenting stress. This study aimed to examine parents’ stress levels, potential contributing factors, as well as changes associated with the COVID-19 pandemic.

This study was based on a cross-sectional design. The target population was parents of children with ADHD aged 6-18 years who were evaluated in a tertiary care hospital in Dubai, United Arab Emirates (UAE) from January 2018 to August 2021. Participants completed a survey, which gathered information on the child’s personal characteristics and medical history as well as the parents’ and family characteristics. Additionally, the parents stress level was evaluated using the English and Arabic-translated versions of the Perceived Stress Scale (PSS).

Parents of 103 children diagnosed with ADHD participated in this study. Most children were males (74.8%), and their mean age was 10.0 ± 3.4 years. Most children had ADHD as a primary diagnosis (87.4%), with ADHD subtypes being mainly combined presentation (60.2%), followed by a predominately inattentive presentation (35.9%). Psychiatric morbidity was present in 87.4% of the children, mainly learning disorders (41.7%), conduct disorder (34%), or autism spectrum disorder (24.3%). On the other hand, physical disorders were present in 68.9% of the children. Parents’ perceived stress levels differed significantly according to their children’s ADHD subtypes (p=0.002), with the highest stress levels among parents of children with predominately hyperactive/impulsive ADHD. PSS scores were moderate in 62.1% of the sample and high in 32% of the sample. Significant associations with elevated PSS scores was found in the presence of comorbid tic disorders (p<0.001) as well as in comorbid autism spectrum disorder (p=0.029). The most frequently reported items on the PSS were: being upset because of something that happened unexpectedly; feeling nervous and stressed; being angered because of things that were outside of your control; feeling unable to control important things in life; and feeling that difficulties were piling up so high that could not be overcome. Various changes were reported during the COVID-19 pandemic, which included a significant decrease in social activities (31.1%), time spent with friends (26.2%), conflicts between the child and siblings (18.5%), and conflicts between parents (25.3%). Furthermore, a significant increase was reported in children’s average screen time (28.2%), the quality of the child’s relationship with parents (19.4%), and the overall stresses faced by the family (16.5%).

ADHD is commonly associated with high levels of parental stress. Factors associated with an increased level of stress include ADHD predominantly hyperactive/ impulsive subtype as well as comorbidity with tic disorders or autism spectrum disorder. Furthermore, the COVID-19 pandemic had a marked impact on children with ADHD and their families’ social functioning.

The lifesaving practice of organ donation and transplantation has been deeply impacted by the COVID-19 pandemic. Up until January 2022, donors were screened out of the donor pool in the UAE if they tested positive for SARS-COV-2.

We report a case of a COVID-19 infected donor whose organs were transplanted to 3 uninfected recipients (2 kidneys, 1 liver). A national guideline was created to permit a change in practice after the engagement and endorsement of relevant stakeholders. Recipients were informed of Donor’s COVID status and consented.

The Donor was a 35-year-old previously healthy male who was hospitalized due to a spontaneous intracerebral bleed of unclear etiology and met brain death criteria. SARS-COV-2 PCR testing was obtained on admission and remained persistently positive beyond day 14 of admission. The donor was otherwise afebrile and had normal inflammatory markers with no evidence of an infectious pulmonary process on CT scan. The donor did not receive any COVID therapies. The donor had received 3 doses of the Sinopharm vaccine, the last dose being 3 months prior to admission. Organ retrieval occurred on day 24 of COVID-19 PCR positivity to three uninfected recipients in two different transplant centers in the UAE.

Transplanting solid organs from non-lung COVID positive donors can effectively maintain an expanded donor pool during the pandemic.