Routine Biochemical Screening Research Articles

Is routine haematological and plasma biochemical screening justified in horses presenting with colic?

Is routine haematological and plasma biochemical screening justified in horses presenting with colic?

PSAT200 Parathyroid Crisis Presenting as Failure to Thrive in a Young Man

Abstract Introduction Parathyroid crisis is a serious, life-threatening complication of primary hyperparathyroidism (PHPT) which causes severe symptomatic hypercalcemia and affects multiple organ systems. PHPT is far less common in children and young adults, but they are frequently symptomatic often with kidney and skeletal involvement. We report a case of young adult who presents with severe symptomatic hypercalcemia with classical skeletal findings. Case A 23-year-old man with past medical history of autism spectrum disorder and obesity presented with extreme fatigue, malaise, epigastric pain, nausea and vomiting for 5 days. Patient also reported diffuse bilateral lower extremity pain for 1 year with weakness and difficulty in ambulation for 1 month. He did not see any provider in the last 2 years. He was not on any prescription or over the counter medications. He was found to have severe hypercalcemia with corrected calcium of 14.7 mg/dL, low phosphorus 1.6 mg/dL, low 25 hydroxy vitamin D <4 ng/mL, very high parathyroid hormone (PTH) 1859 pg/mL and high alkaline phosphatase 1167 U/L. No prior history of hypercalcemia. No family history of hypercalcemia, thyroid cancer, pheochromocytoma, pituitary or pancreatic tumor. CT abdomen was performed on admission due to severe gastrointestinal symptoms which revealed left nephrolithiasis, sclerotic changes in the end plates of the spines and multiple lucent lesions throughout femoral necks, symphysis pubis, and sacroiliac joints. It also showed chronic rib fractures. Knee x ray showed bilateral extensive sub-periosteal, sub-tendinous and subligamentous bony resorption and brown tumors. Patient was treated with aggressive intravenous (IV) hydration, calcitonin and IV pamidronate with gradual improvement in serum calcium. Thyroid ultrasound showed left inferior 3.2 cm mass suspicious for parathyroid adenoma. Surgical team was consulted. Patient underwent left inferior parathyroidectomy along with left hemithyroidectomy due to concern for parathyroid cancer. Surgical pathology showed parathyroid adenoma. Patient required aggressive calcium supplementation, along with vitamin D, calcitriol and magnesium to prevent severe hypocalcemia and hungry bone syndrome. He recovered well and was discharged with outpatient follow up. Conclusion Our case highlights that parathyroid crisis is a serious endocrine emergency associated with significant morbidity and urgent surgical intervention after stabilizing serum calcium level leads to a favorable outcome. The finding of parathyroid adenoma is interesting because the constellation of severe skeletal involvement, nephrolithiasis and significantly elevated PTH and calcium in our patient was concerning for parathyroid carcinoma. Clinicians should consider both in patients with severe hypercalcemia and PTH more than 5 times upper limit of normal. The characteristic finding of osteitis fibrosa cystica in our case is rare in United States and is seen in <2% of patients with PHPT due to routine biochemical screening leading to early diagnosis of asymptomatic cases. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

P504 Prospective analysis of micronutrient status and disease course in Inflammatory Bowel Disease

Abstract Background Biochemical deficiencies of iron, B12, vitamin D, vitamin K, folic acid, selenium and zinc are common in patients with Inflammatory Bowel Disease (IBD) and some micronutrient deficiencies have been associated with adverse disease outcomes. This study describes the micronutrient status of a cohort of patients on biologic therapy for IBD and explores the relationship with disease activity. Methods Adult patients with IBD on biologic therapy attending the nurse specialist clinic had 16 serum micronutrients measured alongside routine biochemical screening for disease activity. 12 months of follow up data was collected using electronic patient records. Faecal calprotectin (FCP), albumin and CRP were measured at baseline - patients in whom these biomarkers were within normal range (i.e CRP <10mg/L, albumin >35g/L and FCP <250µg/g) were defined as being in biochemical remission. Disease relapse at follow-up was defined as escalation of maintenance therapy, use of corticosteroid, hospital admission or surgery. Relationships between micronutrient status and time to disease relapse were explored. Results 216 patients (42% female, median age 42, IQR: 30–57) were included. 128 patients had Crohn’s disease (CD). 97 patients were in biochemical remission at enrolment. 12.9% of the total cohort were zinc (Zn) deficient and 6.5% were selenium (Se) deficient. Deficiencies of folate, vitamin C, vitamin B12, vitamin B6 and vitamin D were also prevalent within the cohort. Se deficiency was associated with high CRP (p=.001), low albumin (p=.022), and raised FCP (p=.002) at baseline. Zn deficiency was associated with high CRP (p<.001) and low albumin (p<.001). During the 12 month follow up period, 22/216 patients suffered a disease relapse. Patients with low Zn or low Se levels at baseline were significantly more likely to relapse (p=.007 and p=.019 respectively). In subtype analysis, patients with CD and Zn deficiency were significantly more likely to relapse (p=.003) but this was not the case for UC patients. Patients with UC and Se deficiency were significantly more likely to relapse (p=.001) whereas those with CD were not. Conclusion Zn and Se biochemical deficiencies are common in our cohort of IBD patients on biologic therapy and are predictive of subsequent disease relapse. Whether these signals are causal or a secondary effect of disease activity needs to be explored in future intervention studies.

Clinical Presentation of Primary Hyperparathyroidism in Lahore, Pakistan – A Single Center Study

Aim: To assess different clinical presentations and outcomes of primary hyperparathyroidism in Pakistan. Study Design: Retrospective cross-sectional study. Study Setting: East Surgical Ward, Mayo Hospital, Lahore. Duration: 2011 to 2016 Introduction: PHPT is a common endocrine condition with a wide range of clinical manifestations differing according to geographic. Discussion: The most common clinical presentation in our study was bone pains which were in contrast to the asymptomatic cases being most common manifestation in US and Western countries. 90% (n 36) of the patients had bony involvement while 47.5% (n 19) had renal involvement at the time of presentation. Conclusion: Due to lack of routine biochemical screening tests in developing countries, primary hyperparathyroidism is detected late.

Abstract #1003260: Osteitis Fibrosa Cystica (OFC) - An Unusual Presentation of Contemporary Primary Hyperparathyroidism (PHPT)

OFC (or brown tumors) among patients with Primary hyperparathyroidism ( PHPT) in the US is very rare; PHPT usually presents as asymptomatic hypercalcemia during routine biochemical screening. OFC can sometimes be misdiagnosed as metastatic bone disease, bone cysts, multiple myeloma and osteosarcoma. The differentiating feature is hypercalcemia, with elevated PTH levels. When a lytic lesion is seen on radiography, in the presence of hypercalcemia, evaluation for PHPT should be initiated.

Primary Hyperparathyroidism: A Narrative Review of Diagnosis and Medical Management.

Primary hyperparathyroidism (PHPT) is the most common cause of hypercalcemia in the outpatient setting. Symptomatic presentation includes non-specific signs and symptoms of hypercalcemia, skeletal fragility, nephrolithiasis and nephrocalcinosis. The majority of individuals present at an asymptomatic stage following routine biochemical screening, without any signs or symptoms of calcium or parathyroid hormone (PTH) excess or target organ damage. Indications for surgery have recently been revised as published in recent guidelines and consensus statements. Parathyroidectomy is advised in patients younger than 50 years old and in the presence of either significant hypercalcemia, impaired renal function, renal stones or osteoporosis. Surgery is always appropriate in suitable surgical candidates, however, medical management may be considered in those with mild asymptomatic disease, contraindications to surgery or failed previous surgical intervention. We summarized the optimal medical interventions available in the care of PHPT patients not undergoing parathyroidectomy. Calcium and vitamin D intake should be optimized. Antiresorptive therapy may be used for skeletal protection in patients with an increased fracture risk. Cinacalcet, a calcimimetic agent, has been shown to effectively lower serum calcium and PTH levels. The effect of medical treatment on the reduction in fracture risk is unknown and should be the focus of future research.

Comparison of ambulatory blood pressure between patients with primary aldosteronism and other forms of hypertension.

Primary aldosteronism (PA) is a potentially curable cause of hypertension associated with worse cardiovascular prognosis than blood pressure-matched essential hypertension (EH). Effective targeted treatment for PA is available with the greatest benefit seen if treatment is started early, prior to the development of end-organ damage. However, PA is currently substantially under-diagnosed. The standard screening test for PA, the aldosterone-to-renin ratio (ARR), is performed infrequently in both primary and tertiary care. In contrast, ambulatory blood pressure monitoring (ABPM) is frequently utilized in the assessment of hypertension. The aim of this study was to compare ABPM parameters in hypertensive patients with and without PA, in order to identify features of ABPM associated with PA that can prompt screening. Patients with PA (n=55) were identified from a tertiary clinic specializing in the management of endocrine causes of hypertension whilst the controls (n=389) were consecutive patients with hypertension but without a known diagnosis of PA who were referred for ABPM. In this study, PA patients were younger and had higher 24-h, day, and night-time blood pressure compared with controls despite similar number of antihypertensive medications. However, there was no significant difference in nocturnal dipping or day-night blood pressure variability between the two groups. An elevated ambulatory blood pressure in patients on multiple antihypertensives could suggest underlying PA but in the absence of other distinguishing features, ABPM could not reliably differentiate PA from other forms of hypertension. Routine biochemical screening for PA remained the most reliable way of detecting this treatable secondary cause of hypertension.

High Cotinine and Healthcare Utilization Disparities Among Low-Income Children

This study assesses the associations of child salivary cotinine, parent-reported smoking, and child tobacco smoke exposure with the number of child healthcare visits and hospital admissions over a 6-month period. This study also assesses the relationships between participant characteristics and child cotinine. Longitudinal data were evaluated from a sample of 313 clinically ill children aged 0-9 years who lived with a smoker and presented to a pediatric emergency department or urgent care in 2016-2018. In 2020, cotinine measurements were log transformed, and Poisson and linear regression were performed. The majority of the children came from low-income homes (66.1%) and had public insurance/self-pay (95.5%). Child cotinine concentrations ranged from 0.1 to 332.0 ng/mL (geometric mean=4.8 ng/mL, 95% CI=4.1, 5.5). Poisson regression results indicated that each 1-unit increase of log-cotinine concentration was associated with an increase in pediatric emergency department visits over a 6-month period after the baseline visit, with an adjusted RR of 1.16 (95% CI=1.01, 1.34). Each 1-unit increase of log-cotinine concentration was associated with an increase in the frequency of hospital admissions over the 6-month period, with an adjusted RR of 1.50 (95% CI=1.08, 2.09). No differences were found between parent-reported smoking or child tobacco smoke exposure and healthcare utilization. Linear regression results indicated that children who were younger (β= -0.227, p=0.049), were White (geometric mean=5.5 ng/mL), had a medical history of prematurity (geometric mean=8.1 ng/mL), and had a winter baseline visit (geometric mean=6.5 ng/mL) had higher cotinine concentrations. Children living in apartments (geometric mean=5.5 ng/mL) and multiunit homes (geometric mean=5.5 ng/mL) had higher cotinine concentrations than those in single-family homes (geometric mean=3.6 ng/mL). Routine biochemical screening could identify children who are in need of intensive tobacco smoke exposure reduction interventions.

Progressive rise in the prevalence of asymptomatic primary hyperparathyroidism in India: Data from PHPT registry.

Primary hyperparathyroidism (PHPT), a third common endocrine disorder,varies from asymptomatic disease, mostly seen in the West where routine biochemical screening is practiced, to the classical symptomatic disease mostly seen in the Eastern countries. We aimed to compare the demographic, clinical, biochemical measurements in patients with asymptomatic and symptomatic PHPT from the Indian PHPT registry. Data of PHPT patients from the last 25years (1995-2019) were analyzed for demographic, clinical presentation and biochemical measurements, and compared these characteristics between asymptomatic and symptomatic PHPT patients. Of the 554 patients, 54 (10%) patients had asymptomatic PHPT. There was a sharp rise in the proportion of asymptomatic PHPT patients of 3% in the first decade to 13% in the second decade of the century (p = 0.003). Patients with asymptomatic PHPT were significantly older (50 vs. 42years; p < 0.0001) and had higher mean body mass index (27.8 vs. 23.5kg/m2; p < 0.0001) compared to the symptomatic PHPT group. In addition, asymptomatic PHPT patients had significantly lower median plasma iPTH (180 vs. 370pg/mL; p < 0.0001), serum alkaline phosphatase (119 vs. 172IU/L; p < 0.0001), and parathyroid adenoma weight (1.0 vs. 2.62g; p = 0.006) compared to the symptomatic PHPT group. Although symptomatic PHPT is still most prevalent (> 90%) in India with higher indices of the disease and tumor weights, there is a progressive rise in the prevalence of asymptomatic PHPT patients in the last decade. Improvements in calcium and vitamin D nutrition might account for this change as in the Western series.

SAT-LB65 A Rare Existence

Primary hyperparathyroidism is a common endocrine disorder of metabolism usually due to a parathyroid adenoma. Although, the clinical presentation of primary hyperparathyroidism has changed from Albright’s description of a disease of bones and stones, the central target organs affected by this disorder continue to be the skeleton and kidneys. With the advent of routine biochemical screening, the typical diagnosis of primary hyperparathyroidism is no longer accompanied by overt skeletal and renal involvement. Majority of the cases of primary hyperparathyroidism are due to parathyroid adenomas. Giant glands were defined as greater than the 95th percentile, characterized as glands weighing > 3.5 grams.This present case in a 54-year old female is a rare case of primary hyperparathyroidism secondary to a giant parathyroid adenoma measuring 10.7 x 8.0 x 40.0 cm and weighing 145 grams, the largest giant parathyroid adenoma reported to date, with co-existent silent thymoma, multinodular goiter and osteosclerosis of the vertebral spine, metaphorically known as the “rugger-jersey spine”. The association between thymoma and parathyroid adenoma is rare, and only 3 cases have been reported in the literature. We characterized the correlation of preoperative imaging, intraoperative location, and postoperative course, including significant postoperative hypoparathyroidism, as compared to other patients with PHPT to determine whether giant adenomas represent a clinical entity with distinct clinical characteristics.Keywords: primary hyperparathyroidism, giant parathyroid adenoma, rugger-jersey spine, thymomaAbbreviationPHPTPrimary hyperparathyroidism

Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease.

Catecholamine-secreting tumors are rare among the pediatric population but are increasingly being reported in children with sustained hypoxia secondary to cyanotic congenital heart disease (CCHD). With this review, we report the clinical characteristics of these tumors in children with CCHD. The articles included in the present review were identified using PubMed through February 2019. A manual search of the references retrieved from relevant articles was also performed. Pheochromocytomas and paragangliomas (PPGL) in children are commonly associated with high-risk germline or somatic mutations. There is evidently a higher risk of tumorigenesis in children with CCHD as compared with the general pediatric population, even in the absence of susceptible gene mutations. This is due to molecular mechanisms involving the aberrant activation of hypoxia-response elements, likely secondary to sustained hypoxemia, resulting in tumorigenesis. Due to overlapping symptoms with CCHD, the diagnosis of PPGL may be delayed or missed in these patients. We studied all previously reported PPGL cases in children with CCHD and reviewed phenotypic and biochemical features to assess for contributing factors in tumorigenesis. Larger studies are needed to help determine other potential predisposing factors and to establish screening guidelines in this high-risk population. A delay in diagnosis of the PPGL tumors can lead to exacerbation of cardiac failure, and therefore early diagnosis and intervention may provide better outcomes in these patients, necessitating the need for regular surveillance. We recommend routine biochemical screening in patients with sustained hypoxia secondary to CCHD.

Limited Utility of Biochemical Screening for Pituitary Deficiencies and Adverse Effects in Idiopathic GH Deficiency.

ContextIn children with isolated growth hormone (GH) deficiency (GHD), routine biochemical screening for multiple pituitary hormone deficiencies (MPHD) and adverse effects related to growth hormone (GH) treatment are frequently performed. More evidence is needed to support this practice.ObjectivesTo evaluate the rate of development of MPHD among children initially diagnosed with isolated GHD and to assess the utility of screening tests to identify complications of GH therapy.DesignRetrospective analysis of subjects treated with GH since 2005. For the first objective, only subjects diagnosed with GHD were included. Subjects were excluded if GHD was associated with an acquired disorder or condition known to be associated with pituitary abnormalities. For the second objective, other GH-treated diagnoses were included.PatientsA total of 328 subjects (171 with GHD, 154 with idiopathic short stature, and three with SHOX deficiency).ResultsIn subjects with isolated GHD, MPHD was diagnosed in seven (4.2%) after a mean of 35.4 months (range, 9.4 to 68.0). Sex, age at diagnosis, duration of GH, and peak stimulated GH levels were not associated with developing MPHD. Among subjects with an MRI abnormality, 13.9% developed MPHD (OR, 6.3; 95% CI, 1.2 to 33.7). In the entire cohort, three subjects (0.9%) developed dysglycemia, and no subject had persistently abnormal liver or renal function tests.ConclusionsThere is a limited role for routine biochemical screening for MPHD in children with idiopathic isolated GHD or for adverse effects in otherwise healthy children. Routine biochemical screening for MPHD should be limited to those with an abnormal MRI.

Clinical Presentation and Outcomes of Phaeochromocytomas/Paragangliomas in Neurofibromatosis Type 1.

Introduction: Patients with neurofibromatosis type 1 (NF1) are at risk of developing phaeochromocytomas/paragangliomas (PHAEO/PG). Unlike in other familial PHAEO/PG syndromes, there are no published guidelines regarding screening in asymptomatic or normotensive patients with NF1. This strategy may be associated with preventable morbidities in those patients who ultimately present with symptomatic PHAEO/PG. Objective: To describe the mode of presentation and the incidence of adverse clinical outcomes attributed to PHAEO/PG in NF1. Methods: A retrospective study was performed in a tertiary referral centre in collaboration with a national complex NF1 centre. Hospital records and databases between 1998–2018 were searched. Results: Twenty-seven patients with NF1 and PHAEO/PG were identified. In all but one, PHAEO/PG was diagnosed after NF1. The median age at the time of diagnosis of PHAEO/PG was 43 years (range 22–65) and 21/27 (78%) were females. The diagnosis was mostly incidental in 13/27 (48%) while classical PHAEO/PG symptoms were found in 15/27 (56%), and hypertension was found in 14/27 (52%) of NF1 patients prior to PHAEO/PG diagnosis. No patient had undergone biochemical screening for PHAEO/PG. Metastatic disease was evident in 2/27 patients, 8 suffered potentially avoidable complications attributed to PHAEO/PG (including two deaths). Conclusion: The course of PHAEO/PG in NF1 is associated with an unpredictable presentation and potentially avoidable adverse outcomes. We recommend that routine biochemical screening for PHAEO/PG should be part of the care package offered to all patients with NF1 by regular measurements of plasma free or urinary fractionated metanephrines starting from early adolescence and repeated every 3 years.

Predictive Value of Maternal Serum Biomarkers for Preeclampsia and Birth Weight: A Case-Control Study in Chinese Pregnant Women.

In clinical practice, abnormal biochemical changes often occur in women who eventually develop preeclampsia (PE). The study aims to investigate whether maternal serum biochemical markers in the early third trimester can predict PE and neonatal birth weight. A retrospective case-control study was performed on 287 women who subsequently developed PE (mild = 139; severe = 148) and 143 healthy women. Fasting venous blood samples of all gravidas were drawn for routine biochemical markers screening in the early third trimester (28.49 ± 1.63 weeks). Appropriate statistical methods were selected for analysis with SPSS software. (1) The concentrations of plasma triglyceride (TG), low-density lipoprotein cholesterol (LDL), and uric acid (UA) in the severe and mild subgroups of the PE group were significantly higher compared with the respective levels in the normal pregnancy groups (3.90 vs. 4.03 vs. 3.14 mmol/L; 3.41 vs. 3.33 vs. 2.89 mmol/L; 365.42 vs. 318.91 vs. 284.69 μmol/L; p < 0.0001). Serum calcium levels in PE group were significantly lower than those in control group (2.10 vs. 2.18 vs. 2.22 mmol/L; p < 0.0001). (2) By using the receiver operating characteristic curve to estimate the diagnosis rate of screening for PE of each marker, the highest sensitivity appeared by the combination of TG, total cholesterol (TC), LDL, high-density lipoprotein cholesterol (HDL), LDL/HDL, UA, Ca2+, and homocysteine (HCY) (79%). The area under curve (AUC) of UA was 0.70, which was the highest among these eight markers, but the AUC of an eight-marker combination model (0.85) had a better diagnostic indication. (3) In PE, the maximum systolic/diastolic blood pressure was significantly positively correlated with serum UA (r = 0.212/0.205, p < 0.0001); and negatively correlated with serum total calcium (r = -0.193/-0.196, p = 0.001). The neonatal birth weight of PE group had a positive correlation with serum TG levels (r = 0.141, p = 0.017) and serum total calcium levels (r = 0.221, p < 0.0001), and a negative correlation with UA levels (r = -0.265, p < 0.0001). The individual marker really performs terrible in predicting PE. Joint monitoring and evaluation of these parameters may improve the screening efficiency for the prediction of PE and poor fetal growth early.

Renal Manifestation in Patients with Primary Hyperparathyroidism: a Retrospective Analysis in a Tertiary Institute

&lt;p&gt;&lt;strong&gt;Objectives:&lt;/strong&gt; The classical renal manifestations of primary hyperparathyroidism (PHPT) are nephrolithiasis and nephrocalcinosis. The presence of renal stone categorizes PHPT as symptomatic variant. The clinical profile of PHPT has changed in past few decades with decreased prevalence of renal stone disease with the introduction of widespread routine biochemical screening in normal subjects. In developing countries, PHPT is still a late diagnosed disorder and most of the patients are symptomatic at presentation. Presence of renal stone in PHPT patients is an absolute indication of parathyroidectomy, hence it is important to identify renal involvement in PHPT. The objective of the study is to determine the rate of renal manifestations in patients of biochemically primary hyperparathyroidism and compared to control group. This retrospective review was performed to determine whether the rate of nephrolithiasis and nephrocalcinosis is still high in the patients who underwent dual phase 99mTc sestamibi scan for PHPT at National Institute of Nuclear Medicine and Allied Sciences (NINMAS) compared to those not affected by the disorder.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Patients and Methods:&lt;/strong&gt; A total 149 patients (male 72 and female 77) and mean age 41 ± 14.73 years with PHPT were included in this study. All patients underwent dual phase 99mTc sestamibi parathyroid scan. Result of 99mTc sestamibi scan were divided into two groups. Group I represented positive scan and group II indicated negative scan respectively.Relevant clinical history, biochemical values including serum calcium level, serum parathormone (PTH) level and data on renal manifestations were recorded. The control group comprised of 650 subjects who had abdominal ultrasonography for various clinical conditions without any history of PHPT. Renal manifestations were compared between PHPT patients and the control group.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results:&lt;/strong&gt; Among 149 patients, scan was positive in 54(36.2%) cases (group I) and scan was negative in 95(63.8%) cases (group II). In group I, renal manifestations were present in 20 cases and absent in 34 cases. In group II, renal manifestations were present in 32 cases and were absent in 63 cases. Nephrolithiasis and nephrocalcinosis were present in 45(30.2%) and 7(4.7%) cases respectively in study population compared to 8(1.23%) persons of control group of 650 subjects. Pearson’s chi-square analysis showed that the difference in the rate of renal manifestations was significant (p &amp;lt; 0.001) between study population and control group. However, with in the study population the rate of renal manifestations between group I and group II was not significantly different (p = 0.137).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion:&lt;/strong&gt; This study showed eighteen fold increased renal manifestations in the patients with PHPT imaged for parathyroid gland compared to the subjects not affected by the disorder. Symptomatic variant of PHPT with renal manifestation was higher in this study compared to western countries. During parathyroid scanning in PHPT routine ultrasonographic evaluation of kidneys is necessary to exclude renal manifestation, even with negative parathyroid scan.&lt;/p&gt;&lt;p&gt;Bangladesh J. Nuclear Med. 20(1): 32-36, January 2017&lt;/p&gt;

Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature.

To examine the risk for clinically significant chromosomal microarray analysis (CMA) findings in fetal right aortic arch (RAA). Data from all CMA analyses performed owing to isolated RAA reported to the Israeli Ministry of Health between January 2013 and September 2016 were evaluated retrospectively. Risk for abnormal CMA findings was compared with two control populations, based on both previously described 9272 pregnancies with normal ultrasound, and on a local cohort of 5541 pregnancies undergoing CMA testing owing to maternal request. In addition, Pubmed database search was conducted for original researches examining this issue. Of 94 CMA analyses performed owing to isolated RAA, six (6.4%) pathogenic findings were detected (47,XX + 21; 45,X; two 22q11.2 microdeletions; 10p15.3 microdeletion and 16p11.2 duplication). Compared with control groups, an isolated RAA yielded a significantly increased relative risk for abnormal CMA results. Literature search yielded two additional retrospective studies describing microarray testing in RAA and encompassing 57 cases. The overall risk for clinically significant CMA findings was 6.62% (10/151). CMA testing is indicated in cases of prenatal isolated RAA, even in the era of advanced sonographic equipment, routine biochemical screening for Down syndrome and available non-invasive prenatal testing.

Routine blood tests are associated with short term mortality and can improve emergency department triage: a cohort study of >12,000 patients

BackgroundPrioritization of acutely ill patients in the Emergency Department remains a challenge. We aimed to evaluate whether routine blood tests can predict mortality in unselected patients in an emergency department and to compare risk prediction with a formalized triage algorithm.MethodsA prospective observational cohort study of 12,661 consecutive admissions to the Emergency Department of Nordsjælland University Hospital during two separate periods in 2010 (primary cohort, n = 6279) and 2013 (validation cohort, n = 6383). Patients were triaged in five categories by a formalized triage algorithm. All patients with a full routine biochemical screening (albumin, creatinine, c-reactive protein, haemoglobin, lactate dehydrogenase, leukocyte count, potassium, and sodium) taken at triage were included. Information about vital status was collected from the Danish Central Office of Civil registration.Multiple logistic regressions were used to predict 30-day mortality. Validation was performed by applying the regression models on the 2013 validation cohort.ResultsThirty-day mortality was 5.3%. The routine blood tests had a significantly stronger discriminative value on 30-day mortality compared to the formalized triage (AUC 88.1 [85.7;90.5] vs. 63.4 [59.1;67.5], p < 0.01). Risk stratification by routine blood tests was able to identify a larger number of low risk patients (n = 2100, 30-day mortality 0.1% [95% CI 0.0;0.3%]) compared to formalized triage (n = 1591, 2.8% [95% CI 2.0;3.6%]), p < 0.01.ConclusionsRoutine blood tests were strongly associated with 30-day mortality in acutely ill patients and discriminatory ability was significantly higher than with a formalized triage algorithm. Thus routine blood tests allowed an improved risk stratification of patients presenting in an emergency department.

The Changing Profile of Hypercalcemia in Hospital Populations

Hypercalcemia is a relatively common condition in hospitalized patients. Malignancy is still the most common etiology for hypercalcemia in hospitalized populations. Much insight has been gained into the pathogenesis of malignancy-associated hypercalcemia (MAHC) over the last three decades. The classical primary hyperparathyroidism (PHPT) used to be a severe debilitating disease, usually involving bones and kidneys, needing hospital-based management. However, over the past five decades in the Western world and one decade in the Eastern countries, more and more cases of asymptomatic PHPT are being diagnosed. This population is detected with mild hypercalcemia on routine biochemical screening without any overt clinical features. Overzealous correction of asymptomatic vitamin D deficiency has led to the emergence of another type of hypercalcemia, called vitamin D toxicosis. This is not uncommonly seen, especially in countries where megadoses of injectable vitamin D preparations are easily accessible. Hypercalcemia of advanced chronic liver disease (CLD), a poorly understood and uncommonly reported condition is usually seen in hospitals having large volume hepatological services. Hypercalcemia due to chronic infective granulomatous diseases (like tuberculosis) in underdeveloped nations and granulomatous reactions to cosmetic filling materials in developed nations contribute significantly to non-parathyroid group of hypercalcemia. In conclusion, the pattern of hypercalcemia in hospitalized patients has changed considerably over the last five decades. Clinicians should be aware of these changing patterns so that appropriate diagnosis and treatment can be offered to the patients.

Urine Cotinine Screening Detects Nearly Ubiquitous Tobacco Smoke Exposure in Urban Adolescents.

Routine biochemical assessment of tobacco smoke exposure could lead to more effective interventions to reduce or prevent secondhand smoke (SHS)-related disease in adolescents. Our aim was to determine using urine cotinine (major nicotine metabolite) measurement the prevalence of tobacco smoke exposure among adolescents receiving outpatient care at an urban public hospital. Surplus urine was collected in 466 adolescents attending pediatric or urgent care clinics at Zuckerberg San Francisco General Hospital, serving families with lower levels of income and education, in 2013-2014. The majority were Hispanic or African American. Urine cotinine cut points of 0.05 to 0.25 ng/ml, 0.25 to 30 ng/ml, and 30 ng/ml were used to classify subjects as light SHS or thirdhand smoke exposed, SHS or light/intermittent active users, and active tobacco users, respectively. Among subjects 87% were exposed, including 12% active smoking, 46% SHS and 30% lightly exposed. The SHS exposed group adjusted geometric mean cotinine values were significantly higher in African Americans (1.48 ng/ml) compared to other groups (0.56-1.13 ng/ml). In a city with a low smoking prevalence (12%), a large majority (87%) of adolescents seen in a public hospital clinic are exposed to tobacco. This is much higher than reported in national epidemiological studies of adolescents, which used a plasma biomarker. Since SHS is associated with significant respiratory diseases and parents and adolescents underreport exposure to SHS, routine biochemical screening should be considered as a tool to reduce SHS exposure. The clinical significance of light exposure needs to be investigated. Urine biomarker screening found that a large majority (87%) of adolescents treated in an urban public hospital are exposed to tobacco. Since SHS is associated with significant respiratory diseases and parents and adolescents underreport exposure to SHS, routine biochemical screening should be considered as a tool to reduce SHS exposure.

First Trimester Maternal Serum Biochemical Markers of Aneuploidy in Pregnancies With Abnormally Invasive Placentation

(BJOG. 2015;122:1370–1376) This study aims to examine whether differences exist in routine first trimester maternal serum biochemical screening measurements among normal pregnancies and those complicated by placenta previa and abnormally invasive placentation (AIP). The term, AIP was suggested recently to avoid the confusion with terminology defining the various types of morbidly adherent placentae—placenta accreta, increta, and percreta.