Screening For Metabolic Disorders Research Articles

Roles of Hospital Type and Community Setting in Rate of Screening for Metabolic Disorders Among Psychiatric Patients.

Globally, rates of metabolic disorders continue to climb, leading to significant disease morbidity and mortality. Individuals with mental illness are particularly prone to obesity, and some medications, such as antipsychotics, may increase the risk for metabolic disorders. The American Psychiatric Association and the American Diabetes Association recommend that patients taking antipsychotic medications receive regular screening for metabolic disorders. This study examined hospital and community factors associated with screening these patients for such disorders. The authors combined Centers for Medicare and Medicaid Services (CMS) hospital-level data on screening for metabolic disorders among patients with an antipsychotic prescription with community data, including urbanization classification, social vulnerability, and metabolic disease presence and risk factors. Data were merged at the county level and evaluated with a nonparametric multivariate regression model. The CMS data set included 1,497 U.S. hospitals with data on screening for metabolic disorders among patients with an antipsychotic prescription. Screening rates varied by type of facility; acute care and critical access hospitals outperformed freestanding psychiatric facilities (p<0.001). No other variables examined in the multivariate model were associated with screening for metabolic disorders. Despite common resource limitations, screening for metabolic disorders may be driven more by logistics and less by time, finances, or a community's primary care network. Identifying the specific logistical challenges of freestanding psychiatric facilities could aid in the development of targeted interventions to improve the rates of screening for and treatment of not only metabolic disorders but also other common comorbid conditions.

Tumor Necrosis Factor (TNF) α, Endothelin (ET) 1 and α1-Acid Glycoprotein (AGP) as Potential Urine and Serum Markers of Metabolic Complications in Psoriasis?

Psoriasis, one of the most frequent dermatoses, strongly associated with metabolic disorders which increase patients' comorbidity and mortality. Hence, it is essential to look for markers of such complications. Our aim was to assess the clinical utility of urinary tumor necrosis factor alpha (TNFα), endothelin 1 (ET-1) and α1-acid glycoprotein (α1AGP) as well as their serum concentrations as markers of metabolic complications in psoriatics, and to examine the relations of these markers to clinical and demographic parameters. The study involved 60 patients with plaque psoriasis and 30 volunteers without skin diseases (the control group). Serum and urinary concentrations of TNFα, ET-1 and α1AGP were measured by ELISA. Psoriasis severity was assessed using the psoriasis activity and severity index (PASI). Routine laboratory investigations were additionally performed. All serum markers were significantly higher in the patients compared to the controls. TNFα was undetectable in the urine in half of the patients. The urinary ET-1/creatinine concentration ratio was significantly lower in the psoriatics than the controls, whereas the absolute urinary α1AGP was significantly higher and the α1AGP/creatinine ratio was insignificantly different. There was no correlation between serum or urinary markers and PASI. All serum markers were higher in patients with psoriasis lasting less than 15years. Serum TNFα, ET-1 and α1AGP seem to be useful biomarkers of metabolic syndrome in psoriatics. ET-1 could perhaps become a urinary marker of metabolic disorders in psoriatics, but further studies are required to confirm that a decreased ET-1 concentration in urine is a reliable predictive tool. Increased urinary α1AGP also requires more in-depth research as a potential marker. TNFα urine assessment does not seem to be useful for screening for metabolic disorders in psoriatics. Serum or urinary TNFα, ET-1 and α1AGP do not seem to be associated with psoriasis severity or duration.

Analysis of online parenting community posts on expanded newborn screening for metabolic disorders using topic modeling: a quantitative content analysis.

As more newborns have received expanded newborn screening (NBS) for metabolic disorders, the overall number of false-positive results has increased. The purpose of this study was to explore the psychological impacts experienced by mothers related to the NBS process. An online parenting community in Korea was selected, and questions regarding NBS were collected using web crawling for the period from October 2018 to August 2021. In total, 634 posts were analyzed. The collected unstructured text data were preprocessed, and keyword analysis, topic modeling, and visualization were performed. Of 1,057 words extracted from posts, the top keyword based on 'term frequency-inverse document frequency' values was "hypothyroidism," followed by "discharge," "close examination," "thyroid-stimulating hormone levels," and "jaundice." The top keyword based on the simple frequency of appearance was "XXX hospital," followed by "close examination," "discharge," "breastfeeding," "hypothyroidism," and "professor." As a result of LDA topic modeling, posts related to inborn errors of metabolism (IEMs) were classified into four main themes: "confirmatory tests of IEMs," "mother and newborn with thyroid function problems," "retests of IEMs," and "feeding related to IEMs." Mothers experienced substantial frustration, stress, and anxiety when they received positive NBS results. The online parenting community played an important role in acquiring and sharing information, as well as psychological support related to NBS in newborn mothers. Nurses can use this study's findings to develop timely and evidence-based information for parents whose children receive positive NBS results to reduce the negative psychological impact.

Early neonatal presentation of methylmalonic aciduria: a case report from rural central India

Methylmalonic aciduria (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. They are characterized by impaired conversion of methymalonyl CoA to succinyl CoA by the enzyme methylmalonyl CoA mutase resulting in accumulation of metabolites of branched chain amino acid catabolism. MMA has a wide clinical spectrum, ranging from a benign condition to fatal neonatal disease. Its onset ranges from the neonatal period to adulthood. We report a case of a day 4 old male child who presented with the complaints of respiratory distress, poor feeding, and excessive crying. Mother had a history of previous neonatal loss on day 3 of life. Diagnosis of MMA was made with the help of clinical presentation and laboratory investigations. At present universal newborn screening for metabolic disorders is not done routinely in India. Diagnosing and managing IEM in India and other developing countries is a challenge since most of the classic metabolic test are not routinely available. Many cases are asymptomatic and undetected and hence we report this case to stress the importance of including MMA in newborn screening programme for early detection and intervention.

Mass spectrometry for screening of metabolic disorders: 9-year biochemical genetics experience

Mass spectrometry for screening of metabolic disorders: 9-year biochemical genetics experience

Initiating newborn screening for metabolic disorders in Pakistan: A qualitative study of the early challenges and opportunities

In multiple countries, newborn screening (NBS) initiatives have provided prevalence insights for inborn errors of metabolism (IEM), but Pakistan lacks such data. Few reports exist on IEM in Pakistan, and none offer comprehensive population-based prevalence information. In response to this deficiency, our study surveyed specialized schools and care centers in Punjab (Faisalabad, Lahore), Pakistan, focused on children with intellectual disabilities (ID). Information from 409 ID children (n = 212 from Faisalabad and n = 197 from Lahore) suspected of IEM was collected. Our objective was to uncover biochemical and molecular underpinnings, ultimately revealing prevalence rates for Punjab, Pakistan. This report details our challenges engaging with affected children, parents, and school staff, emphasizing the potential of such efforts, despite resource limitations, to establish an IEM newborn screening program in Pakistan. By developing NBS program in Pakistan, it will help to minimize the burden of such IEM from the society.

A retrospective study on newborn screening for metabolic disorders.

The process of testing newborn infants for hormonal, genetic, metabolic, and other disorders is known as newborn screening (NSB). Newborn screening is essential for detecting, diagnosing, and treating disorders that could save serious consequences for a newborn's health. Congenital Hypothyroidism (CH), Cystic Fibrosis (CF), Glucose-6-phosphate dehydrogenase (G6PD) deficiency, and Profound Biotinidase deficiency (BD) are common disorders in India. A retrospective analysis of the results of NBS by Cord blood spots was performed at the department of Obstetrics and Gynecology, 7 Airforce Hospital, Kanpur, Uttar Pradesh, from June 2022 to September 2022. During this period, 26 newborns were screened for four disorders, including CH, CF, G6PD deficiency, and BD. In this investigation, no cases of CH, CF, G6PD deficiency, or BD were found to be positive. The results of the current data provide a distinct opportunity to investigate the birth prevalence of inborn metabolic disorders in the area close to the city of Kanpur.

Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities.

Amish and Mennonite (Plain) communities have increased prevalence of many recessively inherited disorders due to founder variants that can be identified using next-generation sequencing (NGS). We assessed newborn screening (NBS) utilization, prior genetic testing, and perceptions of genetic testing among Wisconsin Plain communities to guide implementation and utilization of a population-specific NGS gene panel testing. A mailed paper survey (N = 959) of demographics, NBS utilization, prior genetic testing, and preferences for categorical genetic disorder and defined clinical context testing was developed. Overall response rate was 39% (N = 378; 183 Amish, 193 Mennonite; 2 not Amish/Mennonite). Mennonites were more likely to respond in favor of carrier screening for metabolic disorders and other surgical conditions and less likely to respond in favor of asymptomatic testing for neurologic disorders and lethal disorders compared to Amish. Reported utilization of NBS was positively associated with stated interest in genetic testing for an asymptomatic child. Reported prior genetic testing was positively associated with stated interest in carrier screening and negatively associated with testing a symptomatic child. Although Plain community members share many common outward characteristics, our survey responses suggest diversity in their views of genetic testing and support laboratory methods that can be flexible to varied needs of individuals.

Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations.

Introduction: The major clinical problem presently confronting the Chinese newborn screening (NBS) programs by tandem mass spectrometry (MS/MS) is the lack of comprehensive reference intervals (RIs) for disease biomarkers. To close this gap, the Chinese National Center for Clinical Laboratories (NCCL) launched a nationwide study to investigate the dynamic pattern of 35 MS/MS NBS biomarkers and establish accurate and robust RIs. Methods: Blood spot samples from 4,714,089 Chinese neonates were tested in participating centers/laboratories and used for study analysis. MS/MS NBS biomarker trends were visually assessed by their concentrations over age. Specific partitions were determined arbitrarily by each day and sex or by the statistical method of Harris and Boyd. RIs, corresponding to the 2.5th and 97.5th percentiles, as well as the 1th, 25th, 75th and 99th percentiles were calculated for each reference partition using a non-parametric rank approach. Results: Most MS/MS NBS biomarkers fluctuated during the first week of life, followed by a relatively stable concentration. Age and sex-specific RIs were established and presented an improved specificity over the RIs used in participating centers/laboratories. Females demonstrated higher 2.5th and 97.5th percentiles in all amino acids except arginine and ornithine than males, whereas males showed higher 2.5th and 97.5th percentiles in most acylcarnitines. Conclusion: The present study determined the dynamic trends of 35 MS/MS biomarkers and established age and sex-specific RIs, valuably contributing to the current literature and timely evaluation of neonatal health and disease.

Сучасні підходи до діагностики та скринінгу метаболічних порушень у хворих із неалкогольною жировою хворобою печінки

Неалкогольна жирова хвороба печінки (НАЖХП) є найпоширенішою патологією серед усіх хронічних захворювань печінки, що призводить до погіршення якості життя, інвалідизації і смерті. Згідно із сучасними уявленнями, НАЖХП належить до одного з компонентів метаболічного синдрому, що підкреслює її взаємозв’язок із цукровим діабетом типу 2 та серцево-судинними захворюваннями. В цій статті узагальнено підходи щодо сучасних методів інструментально-лабораторної діагностики різних стадій НАЖХП. Також акцентовано увагу на проведенні скринінгу метаболічних порушень та оцінці серцево-судинного ризику в цієї когорти хворих, оскільки НАЖХП є раннім предиктором розвитку зазначених патологічних станів.

MO232BORTEZOMIB INDUCED PERIPHERAL AND CENTRAL NEUROPATHY : ABOUT 3 CASE REPORTS

Abstract Background and Aims Bortezomib is a proteasome inhibitor, whose efficacy in the treatment of multiple myeloma has been proven over the last years. However, its side effects may cause concern for patients as well as physicians. We focused in this study on Bortezomib-induced neuropathy, one of the most frequent complications. We present 2 cases of peripheral sensory neuropathy and one intriguing case of central neurological manifestation, all caused by Bortezomib administration. Case 1 A 62-year-old man, with a history of diabetes and hypertension, was diagnosed with multiple myeloma in 2019. He received 2 cycles of Bortezamib (2,5 mg), Dexamethasone , and Cyclophosphamide. Each cycle included 4 doses of Bortezomib, and the cycles were 21 days apart. At the end of the second cycle the patient developed posterior cord syndrome with balance disorder and lower extremities paresthesia. Axonal sensitivo-motor polyneuropathy was confirmed by electromyography. A pharmacology investigation was conducted, and the symptoms were attributed to Bortezomib toxicity. Evolution was favourable after change in protocol to Revlimide. No recurrence was noted. Case 2 A 64-year-old man with no prior history was diagnosed with multiple myeloma in 2020. She received a protocol of 4 cycles, 21 days apart, of Bortezomib (2.1 mg) ,Dexamethasone and Thalidomide . Three weeks after the first cycle, the patient presented with confusion, gait disturbance and four-limb pyramidal deficiency syndrome. Electromyography showed axonal sensitivo-motor polyneuropathy .In the absence of other causes, Bortezomib toxicity was suspected and the patient underwent an emergency epurative hemodialysis session, after which symptoms completely disappeared. Bortezomib doses were then reduced. The evolution was favourable. Case 3 A 50-year-old woman was diagnosed with multiple myeloma in 2018 with Randall's disease and quadri-pyramidal syndrome. She was put on 4 courses of Bortezomib 2.4mg Cyclophosphamide and Dexamethasone, 21 days apart. After 2 coursess, she presented a generalized tonic-clonic seizure preceded by headache, dizziness and followed by speech disturbances. Biological screening for metabolic disorders and toxins was unremarkable. Cerebral MRI showed no abnormalities. Doses of Bortezomib were reduced during the following course. We then witnessed an improvement in speech and no recurrence of seizures. Conclusion Bortezomib induced neuropathy is a serious and debilitating complication to which physicians must pay special attention. This side effect can be managed by dose reduction or change of molecules. Outcomes are often favourable.

Improvement of Inpatient Psychiatric Facility Quality Reporting program measure: Screening for metabolic disorders through pharmacy collaborative practice agreement

BackgroundSecond-generation antipsychotics are associated with lower risks of extrapyramidal symptoms, including tardive dyskinesia. However, many second-generation antipsychotics are associated with metabolic adverse effects, including weight gain, impaired blood glucose control, and hyperlipidemia. Metabolic monitoring for patients prescribed antipsychotic medication is 1 of several measures of the Centers for Medicare & Medicaid Services’ Inpatient Psychiatric Facility Quality Reporting program. Screening for metabolic disorders (SMD) must be obtained within the previous 365 days before the hospital discharge date. National data suggest that compliance with this measure is low. ObjectiveTo improve compliance of metabolic monitoring by 20% while ensuring that the quality improvement interventions did not cause any unintended adverse effects on other aspects of our system. Practice descriptionThis quality initiative was conducted at a large, 2000-bed academic medical center with approximately 80 inpatient psychiatric beds.Practice innovation: To improve the metabolic screening rates, a pharmacist collaborative practice agreement (CPA) was established as part of a quality improvement project. Previously, there were no formal processes at the institution to ensure that appropriate laboratory tests were conducted. Evaluation methodsUsing an uncontrolled before-and-after design, SMD data were gathered from 6 months before and 6 months after CPA implementation. Pearson chi-square test or Fisher exact test were used to compare the pre- and postintervention groups in this quasi-experimental design. ResultsCompared with the preintervention period, compliance of SMD monitoring increased by 21.2% in the postintervention phase—from 69.2% to 90.4% (P < 0.001). ConclusionThe empowerment of clinical pharmacists with a CPA significantly improved guideline-concordant metabolic monitoring of antipsychotics. These findings may have significant impact on the approach to the safe use of these essential psychotropic medications and provide a framework for other inpatient mental health facilities to optimally use the skills of their interdisciplinary team.

Comparative assessment of energy metabolism, body composition and metabolic features in children with hypothalamic and simple obesity

Background: Hypothalamic obesity often develops after surgical treatment of craniopharyngioma and is characterized by rapid weight gain, high frequency of metabolic disorders, body composition specificity and resistance to standard lifestyle modification approaches and medication therapy of obesity. Recent studies show that one of the mechanisms, explaining weight gain in these children is decrease in resting energy expenditure (REE).Aims: To compare REE, body composition parameters, and the frequency of metabolic disorders in children with hypothalamic and simple obesity.Materials and methods: The study included 60 obese children aged 7 to 17 years, divided into two groups. The study group included 20 children with hypothalamic obesity, developed after craniopharyngioma treatment. The control group consisted of 40 children with simple obesity. Body composition, REE, and metabolic disorders were associated in all children.Results: Children with hypothalamic obesity showed a significant decrease of resting energy expenditure. The average decrease in REE was 13.1%, but in single patients it reached 33.4%. The percentage of fat mass in hypothalamic and simple obesity does not differ significantly (39.7% [36.2; 42.6] vs 38.8 % [35.9; 43.2]; p=0.69). Screening for metabolic disorders revealed a high prevalence of metabolic disorders in hypothalamic obesity: impaired glucose tolerance - in 10%; dyslipidemia - 55%, insulin resistance-50%, non-alcoholic fatty liver disease - 60 %.Conclusions: Children with hypothalamic obesity showed a significant decrease of resting energy expenditure. When planning a diet in this group of patients it is preferable to use indirect calorimetry. Hypothalamic obesity even at an early age is associated with a high frequency of metabolic disturbance. Hypothalamic obesity in children is not associated with more pronounced hyperinsulinemia and insulin resistance compared to the simple obesity.

Utility of blood tests in screening for metabolic disorders in kidney stone disease.

To determine the clinical utility of blood tests as a screening tool for metabolic abnormalities in patients with kidney stone disease. Clinical and biochemical data from 709 patients attending the Oxford University Hospitals NHS Foundation Trust for assessment and treatment of kidney stones were prospectively collected between April 2011 and February 2017. Data were analysed to determine the utility of serum calcium, parathyroid hormone (PTH), urate, chloride, bicarbonate, potassium and phosphate assays in screening for primary hyperparathyroidism, normocalcaemic hyperparathyroidism, hyperuricosuria, distal renal tubular acidosis (dRTA) and hypercalciuria. An elevated serum calcium level was detected in 2.3% of patients. Further investigations prompted by this finding resulted in a diagnosis of primary hyperparathyroidism in 0.2% of men and 4.6% of women for whom serum calcium was recorded. An elevated serum PTH level in the absence of hypercalcaemia was detected in 15.1% of patients. Of these patients, 74.6% were vitamin D-insufficient; no patients were diagnosed with normocalcaemic hyperparathyroidism. Hyperuricosuria was present in 21.6% of patients and hypercalciuria in 47.1%. Hyperuricaemia was not associated with hyperuricosuria, nor was hypophosphataemia associated with hypercalciuria. No patient was highlighted as being at risk of dRTA using serum chloride and bicarbonate as screening tests. This study indicates that individuals presenting with renal calculi should undergo metabolic screening with a serum calcium measurement alone. Use of additional blood tests to screen for metabolic disorders is not cost-effective and may provide false reassurance that metabolic abnormalities are not present. A full metabolic assessment with 24-h urine collection should be undertaken in recurrent stone formers and in those at high risk of future stone disease to identify potentially treatable metabolic abnormalities.

MODERN VIEWS ON METABOLIC SYNDROME IN CHILDREN AND ADOLESCENTS

Metabolic syndrome (MS) is a growing serious health risk in adults, children and adolescents. The prevalence of metabolic syndrome ranges from 6 to 39 % depending on the criteria used. Multiple data have shown that MS is associated with a 2-fold increase in cardiovascular disorders and a 1.5-fold increase in all cause mortality. To date, there is no single definition regarding MS for children and adolescents. However, most authors agree with the components needed to diagnose such as central obesity, impaired glucose tolerance (or diabetes), hypertension, and dyslipidemia; each of which presents a serious risk of cardiovascular disease. Overweight and obesity are often seen in children and adolescents in the developed and developing countries with a prevalence of 20–35 %. A number of authors have emphasized the need for a modern adapted definition of MS in children and adolescents. For this purpose, it is necessary to take into account age and sex-dependent anthropometric, metabolic and cardiovascular parameters. Recently, a link has been established between metabolic syndrome and non-alcoholic fatty liver disease, as well as hyperuricemia and sleep disorders. According to current data, NAFLD and MS are closely related, so NAFLD is described as a manifestation of MS in the liver, with insulin resistance being the driving force of pathogenesis. A recent study found that 66 % of children with NAFLD confirmed by biopsy had MS, 63 % had hypertriglyceridemia, 45 % had low HDL cholesterol, 40 % had hypertension, and 10 % had impaired glucose tolerance. The correlation between levels of serum uric acid, MS and some of its components in children and adolescents is described. Hyperuricemia triggers endothelial dysfunction via vasodilation caused by insulin action. Obstructive sleep apnea is associated with MS in children and adolescents and is described as one of the components of MS. In 59 % of children with obstructive sleep apnea, signs of metabolic syndrome are noted. Biomarkers, such as adipocytokines, have been the subject of current research as they are implicated in the pathogenesis of MS. Recently, several adipocytokines and inflammatory cytokines have been identified that have significant positive (leptin, hemerin, vaspine, TNFα, IL-6, and IL-8) or Negative (adiponectin) associations with metabolic risk factors. Some may be considered pathophysiological factors that link obesity and its complications, such as insulin resistance and NAFLD. Epigenetics and gestational programming are important issues in addressing MS in children and adolescents. The role of micro-RNA in the diagnosis, stratification and therapy of MS is increasing. Early identification of risk factors, screening for metabolic disorders and the identification of new treatments are the primary goals of reducing morbidity and mortality. Currently, officially accepted approaches to treating children and adolescents with MS are dietary changes and physical activity. Pharmacological therapy and the use of bariatric (metabolic) surgery is a topic of discussion and is recommended for adolescents in some cases of high-risk MS.

Newborn screening for metabolic disorders in Spain and worldwide

Newborn screening programs are key players in a country’s public health strategies, preventing the burden of care associated with the screened disorders. Its importance has dramatically intensified in recent years due to the increasing number of disorders that fulfil criteria for screening. Since the 1960s, many countries implemented newborn screening programs that are now, at least in developed countries, universal, well established, and with excellent results. Nevertheless, much work is still to be done, mainly in developing countries of Africa, Asia, and South America. In some European countries, including Spain, uniformity of screening panels between different regions is still a challenge, being a source of health inequalities between citizens. The authors will present the current status of newborn screening programs in Spain and integrate it into the current European and world scenario.

A preliminary report on newborn screening of inborn metabolic disorders

Background: Newborn screening (NBS) for metabolic and genetic disorders, which can be treated or modified if detected early in life, can help to prevent potentially disastrous consequences and save a precious life. However, there is no nationwide consensus on neonatal screening in India; hence, several treatable cases may be missed. Objective: The objective of this study was to detect the prevalence of selected metabolic disorders among neonates and to diagnose them as early as possible to minimize the morbidity and mortality. Materials and Methods: This prospective study included all live newborns delivered during period 2015–2016 in a tertiary care neonatal unit in Kolkata. On the 3rd day of life, newborns were subjected to detailed history, with special emphasis on family history and history of consanguinity. This was followed by thorough clinical examination and metabolic screening for congenital hypothyroidism (CH), G6PD deficiency, phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), galactosemia, and cystic fibrosis with heel prick blood sample collected on blotting paper. Results: Of 1373 babies, four babies were screened positive of CH, G6PD deficiency, CAH, and PKU, respectively. However, confirmatory test for PKU came out to be negative. Conclusion: NBS can be an important preventive public health program. Application of tandem mass spectrometry to newborn screening for metabolic disorders offers rapid results and covers a wide range of disorders. However, the screen-positive tests need to be confirmed by actual enzyme assay (for deficiency), chromatography/mass spectroscopy analysis, or DNA testing.

Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

BackgroundMandatory newborn screening for metabolic disorders has not been implemented in most parts of China. Newborn mortality and morbidity could be markedly reduced by early diagnosis and treatment of inborn errors of metabolism (IEM). Methods of screening for IEM by tandem mass spectrometry (MS/MS) have been developed, and their advantages include rapid testing, high sensitivity, high specificity, high throughput, and low sample volume (a single dried blood spot).MethodsDried blood spots of 100,077 newborns obtained from Jining city in 2014-2015 were screened by MS/MS. The screening results were further confirmed by clinical symptoms and biochemical analysis in combination with the detection of neonatal deficiency in organic acid, amino acid, or fatty acid metabolism and DNA analysis.ResultsThe percentages of males and females among the 100,077 infants were 54.1% and 45.9%, respectively. Cut-off values were established by utilizing the percentile method. The screening results showed that 98,764 newborns were healthy, and 56 out of the 1313 newborns with suspected IEM were ultimately diagnosed with IEM. Among these 56 newborns, 19 (1:5267) had amino acid metabolism disorders, 26 (1:3849) had organic acid metabolism disorders, and 11 (1:9098) had fatty acid oxidation disorders. In addition, 54 patients with IEM were found to carry mutations, and the other 2 patients had argininemia.ConclusionsFifty-six cases of metabolic disorders in Jining were confirmed via newborn screening (NBS) by MS/MS. Early diagnosis and treatment are crucial for the survival and well-being of affected children. A nationwide NBS program using MS/MS is recommended, especially in poor areas of China.

Non-immune fetal hydrops of metabolic origin: a case report and a review of the literature

AbstractAimTo propose a diagnostic algorithm for non-immune fetal hydrops (NIFH) of metabolic origin based on a review of the literature and on the workup of a clinical case.BackgroundThe etiology of NIFH is complex and remains unexplained in 15%–25% of patients. The appropriate work up beyond an initial approach is still not well defined but it should include screening for metabolic conditions. Inborn errors of metabolism comprise a heterogeneous group of autosomal recessive rare inherited disorders, among which lysosomal storage disorder is the most common subtype.Case descriptionWe report a case of a 30-year-old pregnant, primiparous woman, referred to a tertiary hospital at 22 weeks of gestation because of a fetal hydrops. The second trimester obstetric ultrasound showed a hydrothorax and a large subcutaneous edema. At 30 weeks of gestation, the fetal health status deteriorated and a massive hepatomegaly was detected. The metabolic study of the amniotic fluid supernatant suggested a lysosomal disease. The ominous prognosis of the condition motivated the parents to opt for a termination of pregnancy. The autopsy study confirmed the existence of a metabolic disease.ConclusionThe incidence of inborn errors of metabolism may be significantly higher in NIHF than reported previously. Consequently, an extensive investigation for the etiology of NIHF including the screening for metabolic disorders seems to be crucial for a definitive diagnosis.Clinical relevanceDespite the lack of treatment options for the majority of these disorders, it is of great importance to follow an established workup, in order to identify the index case as soon as possible, as pregnancy management decisions and prenatal counselling in future pregnancies will depend on a more precise diagnosis.

CMS paves way for pharmacists to help blunt metabolic effects of antipsychotics.

Pharmacists at psychiatric hospitals are positioned to ensure compliance with a medication-related quality measure for patients taking antipsychotic drugs that will soon affect Medicare reimbursement rates. The “Screening for Metabolic Disorders” quality measure requires psychiatric hospitals to document the assessment of body mass index (BMI), blood pressure, blood glucose control, and lipid status within the past year for patients discharged with a prescription for an antipsychotic drug. Hospitals must report on the basis of numerical values, taken from patients’ charts, of the assessment results. Data from discharges during the second half of 2016 must be reported from July 1 through August 15 of this year and will affect reimbursement for fiscal year 2018, which begins October 1. A full year’s worth of discharge data must be analyzed for reimbursement determinations starting in fiscal year 2019. CMS requires psychiatric hospitals to document the testing for patients discharged on any FDA-approved, routinely administered antipsychotic maintenance medication. And hospitals must have the required data on all 4 elements for each patient to satisfy the requirements of the quality measure for that patient.