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Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family.

ABSTRACT: Neonatal hyperparathyroidism is a rare disease caused by a homozygous inactivating mutation in the calcium sensing receptor gene. It presents early in life with life threatening manifestations of hypercalcemia, if left untreated the condition may be lethal. This is the first case series reported from Sudan. Three Sudanese siblings presented with severe symptoms of hypercalcemia in the form of polyuria, failure to thrive and multiple bone fractures. Serum calcium and parathyroid hormone levels were very high with low phosphate and normal alkaline phosphatase levels. Ultrasonography and sestamibi scan were normal and did not assist in diagnosing their condition. Medical management was a great challenge due to unavailability of medications such as parentral bisphosphonates and calcimimetics. Parathyroidectomy was inevitable. Tissue biopsies revealed parathyroid hyperplasia and no adenoma. Gene sequencing revealed a homozygous missense mutation: c 2038 C T p (Arg680Cys) in two siblings, both parents were heterozygous for the same missense mutation. Our report reflects the challenges in diagnosis and management of neonatal hyperparathyroidism in resource limited countries. We also highlight the importance of genetic testing in the diagnosis and management of such cases in countries with high rates of consanguineous marriage.

SUBMITTER: Hassan SS

PROVIDER: S-EPMC8627147 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:PurposeTo provide clinicians practicing in resource-limited settings with a framework to improve the diagnosis and treatment of pediatric and adult patients with sepsis.MethodsThe medical literature on sepsis management was reviewed. Specific attention was paid to identify clinical evidence on sepsis management from resource-limited settings.ResultsRecommendations are grouped into acute and post-acute interventions. Acute interventions include liberal fluid resuscitation to achieve adequate tissue perfusion, normal heart rate and arterial blood pressure, use of epinephrine or dopamine for inadequate tissue perfusion despite fluid resuscitation, frequent measurement of arterial blood pressure in hemodynamically unstable patients, administration of hydrocortisone or prednisolone to patients requiring catecholamines, oxygen administration to achieve an oxygen saturation >90%, semi-recumbent and/or lateral position, non-invasive ventilation for increased work of breathing or hypoxemia despite oxygen therapy, timely administration of adequate antimicrobials, thorough clinical investigation for infectious source identification, fluid/tissue sampling and microbiological work-up, removal, drainage or debridement of the infectious source. Post-acute interventions include regular re-assessment of antimicrobial therapy, administration of antimicrobials for an adequate but not prolonged duration, avoidance of hypoglycemia, pharmacological or mechanical deep vein thrombosis prophylaxis, resumption of oral food intake after resuscitation and regaining of consciousness, careful use of opioids and sedatives, early mobilization, and active weaning of invasive support. Specific considerations for malaria, puerperal sepsis and HIV/AIDS patients with sepsis are included.ConclusionOnly scarce evidence exists for the management of pediatric and adult sepsis in resource-limited settings. The presented recommendations may help to improve sepsis management in middle- and low-income countries.

Project description:PurposeAdequate cancer pain management (CPM) is challenging in resource-limited settings, where current international guideline recommendations are difficult to implement owing to constraints such as inadequate availability and accessibility of opioids, limited awareness of appropriate opioid use among patients and clinicians, and lack of guidance on how to translate the best evidence into clinical practice. The multinational and multidisciplinary CAncer Pain managEment in Resource-limited settings (CAPER) Working Group proposes a two-step initiative to bridge clinical practice gaps in CPM in resource-limited settings.MethodsA thorough review of the literature, a steering committee meeting in February 2017, and post-meeting teleconference discussions contributed to the development of this initiative. As a first step, we developed practical evidence-based CPM algorithms to support healthcare providers (HCPs) in tailoring treatment according to availability of and access to resources. The second part of the initiative proposes a framework to support an effective implementation of the CPM algorithms that includes an educational program, a pilot implementation, and an advocacy plan.ResultsWe developed CPM algorithms for first-line use, breakthrough cancer pain, opioid rotation, and refractory cancer pain based on the National Comprehensive Cancer Network guidelines and expert consensus. Our proposed educational program emphasizes the practical elements and illustrates how HCPs can provide optimal CPM according to evidence-based guidelines despite varied resource limitations. Pilot studies are proposed to demonstrate the effectiveness of the algorithms and the educational program, as well as for providing evidence to support a draft advocacy document, to lobby policymakers to improve availability and accessibility of analgesics in resource-limited settings.ConclusionsThese practical evidence-informed algorithms and the implementation framework represent the first multinational step towards achieving optimal CPM in resource-limited settings.

Project description:Neonatal disease severity scoring systems are needed to make standardized comparison between performances of different units and to give prognostic information to parents of individual babies admitted. Existing scoring systems are unsuitable for resource-limited settings which lack investigations like pH, pO2/FiO2 ratio, and base excess. This study was planned to evaluate Modified Sick Neonatal Score (MSNS), a novel neonatal disease severity score designed for resource-constrained settings. It was a facility-based cross-sectional analytical study, conducted in the "Special Newborn Care Unit" (SNCU) of government district hospital, attached to Kasturba Medical College, Mangalore, India from November 2016 to October 2017. A convenience sample of 585 neonates was included. Disease severity was assessed immediately at admission using MSNS. MSNS had 8 parameters with 0, 1, and 2 scores for each. 41% of study population was preterm (n=240), and 84.1% had birth weight less than 2500 grams (n=492). The mean (SD) of the total MSNS scores for neonates who expired and discharged was, respectively, 8.22 (2.96) and 13.4 (2.14), a difference being statistically significant at P < 0.001. Expired newborns had statistically significant frequency of lower scores across each of the parameters. An optimum cutoff score of ≤10 with 80% sensitivity and 88.8% specificity in predicting mortality was obtained when the ROC curve was generated with the MSNS score as the test variable. Area under the curve was 0.913 (95% CI: 0.879-0.946). In conclusion, MSNS is a practicable disease severity score in resource-restricted settings like district SNCUs. It is for application in both term and preterm neonates. Total score ≤10 has a good sensitivity and specificity in predicting mortality of admitted neonates when used early during the course of hospitalization. MSNS could be used as a tool to compare performance of SNCUs and also enable early referral of individual cases to units with better facilities.

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Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family.

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