Health-related quality of life, mental health and caregiver burden in children with autosomal recessive polycystic kidney disease (ARPKD)

Objective: To examine whether established patient-reported outcome measures are suitable for capturing the impact of ARPKD in children and their families. Method(s): We assessed 44 children with ARPKD (40 families) with respect to patients' health-related quality of life ((hr- QOL) using PedsQLTM ESRD module) and mental health (strength and difficulties questionnaire (SDQ)) as well as family and caregiver burden (Impact on family score (IFS) und Ulm inventory of parental caregiver QOL (ULQIE)) and compared them to published data and 36 healthy control children matched for age and time. Result(s): Patients were aged 9.5 +/- 5.9 years (vs. controls 8.8 +/- 5.0, p = ns) and 21 (48%) were female (vs. 19 controls (53%), p = ns). Mean eGFR was 81 ml/min*1.73m2 (range 4 - 165);7 received dialysis and 11 had functioning kidney transplants (KTX, 2 combined with liver transplants). Eight patients had developmental delay secondary to medical complications, while chronic illness was an exclusion criterion for healthy controls. 61 caregivers of affected children had same gender-distribution (61% vs. 60% mothers) and age (both 42 +/- 7 years) and number of dependent children (1.8 +/- 0.9 vs. 2.0 +/- 0.8) as 57 caregivers of healthy children. The mean proxy reported PedsQL Total score was 77.5 +/- 10.6 (range 59 - 96). It correlated significantly to eGFR (r = 0.5, p < 0.01, (also within the subpopulations pre- and post-KTX)). Parents reported greater mental health problems in affected than in control children with a higher SDQ total score mainly due to higher scores in the hyperactivity and peerinteraction subscales. ULQIE revealed that parents of affected children had significantly lower levels of physical functioning, self-fulfillment and general QOL, but despite higher emotional burden scores they indicated similar satisfaction with family life. Impact on family scores were in a similar range to those of children with moderate to severe disabilities. Conclusion(s): The good spread of PedsQLTM ESRD-scores and their correlation to renal function indicates that it captures significant aspects of ARPKD, however, it may need further adjustment to include liver complications. All four chosen instruments revealed significant impact of ARPKD on hrQOL and mental health of affected children as well as family life and parental wellbeing in comparison to healthy controls. More problems with peer-interactions may also be due to more stringent shielding of chronically ill children from social contacts during the COVID pandemic compared to healthy children.

Persistent Primary Hyperparathyroidism Secondary to Unusual Location of an Ectopic Parathyroid Adenoma

Introduction: Persistent hyperparathyroidism (PHPT) is diagnosed by persistent hypercalcemia in the 6 months following primary parathyroidectomy. With a success rate of roughly 95%, failure of initial surgical exploration points to the possibility of an ectopic gland. High cervical parathyroid adenomas, known as undescended adenomas, occur with a frequency of less than 0.1% and account for 7% of failed parathyroidectomies. Case Description: A 33-year-old female presented with anxiety, panic attacks, fatigue, insomnia, joint pain, constipation, palpitations, polyuria and polydipsia. She had previous history of COVID-19, hyperlipidemia, vitamin D deficiency, and prediabetes. Vital signs were stable. Her physical exam was unremarkable with no thyromegaly, thyroid nodules or palpable neck masses. Initial labs were significant for elevated serum calcium (SCa) at 11.9 mg/dl, 24 hour urine calcium at 318 mg/24 hr and parathyroid hormone (PTH) at 284 pg/ml. All indicative of primary hyperparathyroidism. Preoperative SPECT-CT and ultrasound showed an enlarged right-sided nodule inferior to the thyroid gland. During the initial parathyroidectomy, the suspicious nodule was resected along with three presumed parathyroid glands and cervical lymph nodes. Intraoperative PTH was 234 and 1001 pg/ml. Pathology indicated bilateral benign inferior parathyroids, benign thyroid tissue, and fibroadipose tissue. The patient continued to have persistently elevated SCa at 11.1 mg/dl. Repeat parathyroid scintigraphy was equivocal to the initial scan. A second cervical exploration with right thyroid lobectomy and carotid sheath exploration failed to treat the persistent hypercalcemia. CT neck with contrast performed shortly after second exploration demonstrated an active lymph node versus undescended parathyroid gland inferior to the right submandibular gland. During a follow up appointment, a fine needle aspiration showed parathyroid tissue. After this intervention, the SCa returned to a normal level of 9.1mg/dl and patient’s symptoms resolved. Interestingly, the submandibular adenoma biopsy led to resolution of PTH secretion. This adenoma was eventually removed surgically and pathology confirmed necrosis, likely secondary to the biopsy. Discussion: Ectopic parathyroid adenomas above the carotid bifurcation are a rare cause of PHPT. This case is both unique due to the etiology and resolution of this patient’s PHPT. Recent literature focuses on the multimodal imaging approach to identify cervical ectopic adenomas;however, this case illustrates there may be a role for biopsy in both the diagnosis and potential treatment of submandibular parathyroid adenomas.

If at first you do not succeed. Repeat SARS-COV2 PCR testing

Background: Nucleic Acid Amplification Tests (NAATs) of nasopharyngeal specimens (NPS) have become standard for diagnosis of SARS-COV2. IDSA guidelines suggest repeat testing after 24-48 h when initially negative and clinical suspicion persists. We characterized patients from whom initial NPS were NAAT-negative, but repeats were NAAT-positive, in order to identify which patients might benefit from repeat NAAT for SARS-CoV-2, and the appropriate interval. Methods: We conducted an IRB-approved retrospective review of laboratory and electronic medical record data for all patients evaluated for SARS-CoV-2 infection at the Mount Sinai Health System, whose initial NAATs were done between March 16 - March 30, 2020, and who were retested within one month. NAATs were performed on NPS in viral transport medium using the Roche Diagnostics cobas® 6800 SARS-CoV-2 Test. Baseline patient characteristics, clinical and radiographic findings were identified. Results: Of 235 patients eligible for inclusion, 172 (70.5%) were initially NAAT-negative, and 118 (68.6%) remained NAAT-negative over 1 month follow up. 54 (31.4%) converted to NAAT-positive over the next 1-month. Of patients who became NAAT-positive, 31 (57.4%) were inpatients who converted results within a single admission;the average interval was 6d 7h between the NAAT-negative and NAAT-positive results, and the minimum interval was 10.5 h. Symptoms examined for correlation for conversion to NAAT-positive were: fever, cough, shortness of breath, and combined nausea/vomiting/diarrhea. Duration of symptoms reported at triage did not appear to affect time to conversion to NAAT-positive. No individual symptom was more likely to be associated with conversion to NAAT- positive. However, time to conversion to NAAT-positive was shorter for patients with multiple symptoms. In general, chest radiography (CXR) findings correlated with NAAT results;interval to NAAT-positive was shorter for patients with worsening CXR findings. Conclusion: Our data supports repeat testing in patients with multiple clinical symptoms suggestive of SARS CoV-2 infection and negative initial NP test results. Further studies are needed to determine the true clinical sensitivity and specificity of SARS-CoV-2 NAAT assays.

Higher procoagulatory potential but lower DIC score in COVID-19 ARDS patients compared to non-COVID-19 ARDS patients.

BACKGROUND: COVID-19 is a novel viral disease. Severe courses may present as ARDS. Several publications report a high incidence of coagulation abnormalities in these patients. We aimed to compare coagulation and inflammation parameters in patients with ARDS due to SARS-CoV-2 infection versus patients with ARDS due to other causes. METHODS: This retrospective study included intubated patients admitted with the diagnosis of ARDS to the ICU at Munich university hospital. 22 patients had confirmed SARS-CoV2-infection (COVID-19 group), 14 patients had bacterial or other viral pneumonia (control group). Demographic, clinical parameters and laboratory tests including coagulation parameters and thromboelastometry were analysed. RESULTS: No differences were found in gender ratios, BMI, Horovitz quotients and haemoglobin values. The median SOFA score, serum lactate levels, renal function parameters (creatinine, urea) and all inflammation markers (IL-6, PCT, CRP) were lower in the COVID-19 group (all: p < 0.05). INR (p < 0.001) and antithrombin (p < 0.001) were higher in COVID-19 patients. D-dimer levels (p = 0.004) and consecutively the DIC score (p = 0.003) were lower in this group. In ExTEM®, Time-to-Twenty (TT20) was shorter in the COVID-19 group (p = 0.047), these patients also had higher FibTEM® MCF (p = 0.005). Further, these patients presented with elevated antigen and activity levels of von-Willebrand-Factor (VWF). CONCLUSION: COVID-19 patients presented with higher coagulatory potential (shortened global clotting tests, increased viscoelastic and VWF parameters), while DIC scores were lower. An intensified anticoagulation regimen based on an individual risk assessment is advisable to avoid thromboembolic complications.