Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series.

Summary: X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14 cases of XLH from Gulf Cooperation Council (GCC) countries. The patients' medical history, biochemical and radiological investigative findings, as well as treatment responses and side effects from both conventional and burosumab therapy, are described. Cases were aged 2-40 years at diagnosis. There were two male cases and 12 female cases. All cases were treated with conventional therapy which resulted in a lack of improvement in or worsening of the clinical signs and symptoms of rickets or biochemical parameters. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. In the 10 patients treated with burosumab, there was a marked improvement in the biochemical markers of rickets, with a mean increase in serum phosphate of +0.56 mmol/L and tubular maximum phosphate reabsorption (TmP) to glomerular filtration rate (GFR) ratio (TmP/GFR) of +0.39 mmol/L at 12 months compared to baseline. Furthermore, a mean decrease in serum alkaline phosphatase (ALP) of -80.80 IU/L and parathyroid hormone (PTH) of -63.61 pmol/L at 12 months compared to baseline was observed in these patients. Additionally, patients treated with burosumab reported reduced pain, muscle weakness, and fatigue as well as the ability to lead more physically active lives with no significant side effects of treatment. Learning points: Conventional therapy resulted in a suboptimal response, with a lack of improvement of clinical signs and symptoms. Side effects of conventional therapy included nausea, diarrhea, abdominal pain, nephrocalcinosis, and hyperparathyroidism, which affected the patients' quality of life and adherence to treatment. Burosumab demonstrated marked improvements in the biochemical markers of rickets, in addition to reducing pain, muscle weakness, and fatigue. There were no significant side effects associated with burosumab therapy.

A follow-up study on thyroid aspirates reported as atypia of undetermined significance/follicular lesion of undetermined significance and follicular neoplasm/suspicious for follicular neoplasm: A multicenter study from the Arabian Gulf region.

OBJECTIVE: This is a multicenter study which was conducted to evaluate the follow-up on thyroid aspirate cases with atypia of undetermined significance/follicular cells of undetermined significance (AUS/FLUS) and follicular neoplasm or suspicious for follicular neoplasm (FN/SFN) using the Bethesda system for reporting thyroid cytology (TBSRTC). MATERIALS AND METHODS: The archival materials of all thyroid fine-needle aspirates over a 5-year period were retrieved from 3 institutions in the Arabian Gulf Region. All cytology slides and follow-up material for cases interpreted as AUS/FLUS and FN/SFN were reviewed. The revised diagnoses and follow-up were recorded. Analysis of risk of malignancy was calculated for the 2 entities. RESULTS: A total number of 2592 thyroid fine-needle aspirates were performed, out of which AUS/FLUS was found in 115 (4.4%) while FN/SFN in 39 (1.5%). Follow-up by surgery or repeat FNA was conducted on 42 (27%) and 10 (7%) patients on these 2 categories, respectively. The risk of malignancy was found to be 29% and 45%, respectively. CONCLUSION: The risk of malignancy for AUS/FLUS and FN/SFN are 29% and 45%, respectively. This risk of malignancy in our study is on the higher range of that reported in the literature.

Important determinants of diabetes control in insulin pump therapy in patients with type 1 diabetes mellitus.

BACKGROUND: Insulin pumps are equipped with advanced functions. Intensive training and adherence are required for optimum use of the technology. We aimed to assess the association of various key elements in insulin pump functions on blood glucose control. PATIENTS AND METHODS: Patients on insulin pump therapy were enrolled. Insulin pumps were downloaded (CareLink(®) Pro 3 software; Medtronic Minimed, Northridge, CA), and data were collected over an 8-12-week period. Glycemic control of patients was classified as controlled (hemoglobin A1c [HbA1c] level of 7.5% or less in adults and 8% or less in children) and uncontrolled based on HbA1c level at enrollment. Variables studied were use of sensors and duration, frequency of blood glucose monitoring, Bolus Wizard (Medtronic Minimed) use, frequency of correction boluses, and frequency of cannula changing. RESULTS: Seventy-two patients were enrolled (50 children). Median age was 12 years for children and 27.5 years for adults. Respective median numbers of blood glucose checks were 4.4 and 3.2 for controlled and uncontrolled children (P<0.021) and 3.1 and 2.8 for controlled and uncontrolled adults, respectively. Respective frequency of Bolus Wizard use per day showed a median of 6 and 4.15 for controlled and uncontrolled children (P<0.001) and 3.8 and 3.5 for controlled and uncontrolled adults. Controlled children wore sensors for longer (5 vs. 2.9 days/week) and did more corrections (3.9 vs. 2.5). There was no difference in the frequency of changing the infusion cannula in children's or adults' groups. CONCLUSIONS: We conclude that the frequency of blood glucose monitoring and Bolus Wizard use have a favorable association with glycemic control. These observations were more significant in the children's groups. Our data shows that patients with better control tend to bolus more for correction and wear sensors longer.