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Purpose: To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability., Methods: Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were studied. Fibroblasts were used to measure mutant protein production. Subcellular localization and mobility of wild-type and mutant SATB2 were assessed using fluorescently tagged protein., Results: Recurrent clinical features included neurodevelopmental impairment (19/19), absent/near absent speech (16/19), normal somatic growth (17/19), cleft palate (9/19), drooling (12/19), and dental anomalies (8/19). Six of eight missense variants clustered in the first CUT domain. Sibling recurrence due to gonadal mosaicism was seen in one family. A nonsense mutation in the last exon resulted in production of a truncated protein retaining all three DNA-binding domains. SATB2 nuclear mobility was mutation-dependent; p.Arg389Cys in CUT1 increased mobility and both p.Gly515Ser in CUT2 and p.Gln566Lys between CUT2 and HOX reduced mobility. The clinical features in individuals with missense variants were indistinguishable from those with loss of function., Conclusion: SATB2 haploinsufficiency is a common cause of syndromic intellectual disability. When mutant SATB2 protein is produced, the protein appears functionally inactive with a disrupted pattern of chromatin or matrix association.Genet Med advance online publication 02 February 2017.

Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a loss-of-function mutation in the gene for tissue nonspecific isoenzyme of alkaline phosphatase (ALP) that results in low levels of ALP. The clinical presentation of HPP is variable and in adults can easily be misdiagnosed as other forms of osteomalacia. We present a case of a 53-year-old Caucasian female who was evaluated for recurrent metatarsal fractures. She reported her first metatarsal fracture at age 21, and since then had at least 8 more metatarsal fractures over her lifetime, most without injury other than weight bearing. She reported history of gait disturbance as a child and dental issues (spacing and loosening). Laboratory tests showed normal serum calcium, phosphorus, and parathyroid hormone, but low serum ALP <20 IU/L and elevated N-telopeptide. Foot X-ray showed several healed and nonhealed metatarsal fractures, and bone densitometry revealed osteopenia. She was treated with calcium and vitamin D. A year later she had a new metatarsal fracture and a nontraumatic pelvic fracture. Teriparatide therapy was attempted but not tolerated. Due to suspicion of HPP vitamin B 6 levels were checked and found to be elevated at 263 µg/L. Given her clinical presentation and low ALP levels with elevated vitamin B 6 , the diagnosis of HPP was made. Clinicians should be attentive to a history of recurrent low trauma fractures, premature loss of deciduous teeth, and persistently low serum ALP to suspect this diagnosis. Early case detection with the availability of recent Food and Drug Administration-approved asfotase alfa may avoid years of undiagnosed morbidity., Competing Interests: Declaration of Conflicting Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: In the United States, there is a perceived divide regarding the benefits and risks of firearm ownership. The American College of Surgeons Committee on Trauma Injury Prevention and Control Committee designed a survey to evaluate Committee on Trauma (COT) member attitudes about firearm ownership, freedom, responsibility, physician-patient freedom and policy, with the objective of using survey results to inform firearm injury prevention policy development., Methods: A 32-question survey was sent to 254 current U.S. COT members by email using Qualtrics. SPSS was used for χ exact tests and nonparametric tests, with statistical significance being less than 0.05., Results: Our response rate was 93%, 43% of COT members have firearm(s) in their home, 88% believe that the American College of Surgeons should give the highest or a high priority to reducing firearm-related injuries, 86% believe health care professionals should be allowed to counsel patients on firearms safety, 94% support federal funding for firearms injury prevention research. The COT participants were asked to provide their opinion on the American College of Surgeons initiating advocacy efforts and there was 90% or greater agreement on 7 of 15 and 80% or greater on 10 of 15 initiatives., Conclusion: The COT surgeons agree on: (1) the importance of formally addressing firearm injury prevention, (2) allowing federal funds to support research on firearms injury prevention, (3) retaining the ability of health care professionals to counsel patients on firearms-related injury prevention, and (4) the majority of policy initiatives targeted to reduce interpersonal violence and firearm injury. It is incumbent on trauma and injury prevention organizations to leverage these consensus-based results to initiate prevention, advocacy, and other efforts to decrease firearms injury and death., Level of Evidence: Prognostic/epidemiologic study, level I; therapeutic care, level II.

We report a 5 years old male child with low serum IgG, IgA and IgM levels, who presented with recurrent perianal and oral ulcers, intermittent fever, and protracted diarrhea. Despite the lack of typical respiratory symptoms, low serum IgM level and persistent thrombocytosis, an X-linked hyper-IgM syndrome (X-HIGM) was considered. Laboratory investigations revealed a diagnosis of hyper-IgM syndrome caused by CD40L deficiency.

Organizational structures of healthcare organizations has increasingly become a focus of medical research. In the CAFÉ project we aim to provide a web-service enabling ontology-driven comparison of the organizational characteristics of trauma centers and trauma systems. Trauma remains one of the biggest challenges to healthcare systems worldwide. Research has demonstrated that coordinated efforts like trauma systems and trauma centers are key components of addressing this challenge. Evaluation and comparison of these organizations is essential. However, this research challenge is frequently compounded by the lack of a shared terminology and the lack of effective information technology solutions for assessing and comparing these organizations. In this paper we present the Ontology of Organizational Structures of Trauma systems and Trauma centers (OOSTT) that provides the ontological foundation to CAFÉ's web-based questionnaire infrastructure. We present the usage of the ontology in relation to the questionnaire and provide the methods that were used to create the ontology.

Objectives: The drip and ship model is a method used to deliver thrombolysis to acute stroke patients in facilities lacking onsite neurology coverage. We sought to determine whether our drip and ship population differs from patients treated directly at our stroke center (direct presenters)., Methods: We retrospectively reviewed consecutive patients who received thrombolysis at an outside facility with subsequent transfer to our center between 2009 and 2011. Patients received thrombolysis after telephone consultation with a stroke specialist. We examined demographics, vascular risk factors, laboratory values, and stroke severity in drip and ship patients compared with direct presenters., Results: Ninety-six patients were identified who received thrombolysis by drip and ship compared with 212 direct presenters. The two groups did not differ with respect to sex, ethnicity, vascular risk factors, or admission glucose. The odds ratio (OR) of arriving at our hospital as a drip and ship for someone 80 years or older was 0.31 (95% confidence interval [CI] 0.15-0.61, P < 0.001). Only 21% of drip and ship patients were black versus 38% of direct presenters (OR 0.434, 95% CI 0.25-0.76, P = 0.004). Even after stratifying by age (<80 vs ≥80), a smaller proportion of drip and ship patients were black (OR 0.44, 95% CI 0.24-0.81, P = 0.008). Furthermore, we found that fewer black patients with severe strokes arrived by drip and ship (OR 0.33, 95% CI 0.11-0.98, P = 0.0028)., Conclusions: Our study showed that a smaller proportion of blacks and older adults arrived at our center by the drip and ship model. This may reflect differences in how patients are selected for thrombolysis and transfer to a higher level of care.

Background: To assess the utility of previously developed scoring systems, we compared SEDAN, named after the components of the score (baseline blood Sugar, Early infarct signs and (hyper) Dense cerebral artery sign on admission computed tomography scan, Age, and National Institutes of Health Stroke Scale on admission), Totaled Health Risks in Vascular Events (THRIVE), Houston Intra-arterial Therapy (HIAT), and HIAT-2 scoring systems among patients receiving systemic (intravenous [IV] tissue plasminogen activator [tPA]) and endovascular (intra-arterial [IA]) treatments., Methods: We retrospectively reviewed all IV tPA and IA patients presenting to our center from 2008-2011. The scores were assessed in patients who were treated with IV tPA only, IA only, and a combination of IV tPA and IA (IV-IA). We tested the ability of THRIVE to predict discharge modified Rankin scale (mRS) 3-6, HIAT and HIAT-2 discharge mRS 4-6, and SEDAN symptomatic intracerebral hemorrhage (sICH)., Results: Of the 366 patients who were included in this study, 243 had IV tPA only, 89 had IA only, and 34 had IV-IA. THRIVE was predictive of mRS 3-6 in the IV-IA (odds ratio [OR], 1.95; 95% confidence interval [CI], 1.30-2.91) and the IV group (OR, 1.71; 95% CI, 1.43-2.04), but not in the IA group. HIAT was predictive of mRS 4-6 in the IA (OR, 3.55; 95% CI, 1.65-7.25), IV (OR, 3.47; 95% CI, 2.26-5.33), and IV-IA group (OR, 6.48; 95% CI, 1.41-29.71). HIAT-2 was predictive of mRS 4-6 in the IA (OR, 1.39; 95% CI, 1.03-1.87) and IV group (OR, 1.36; 95% CI, 1.18-1.57), but not in the IV-IA group. SEDAN was not predictive of sICH in the IA or the IV-IA group, but was predictive in the IV group (OR, 1.54; 95% CI, 1.01-2.36)., Conclusions: Our study demonstrated that although highly predictive of outcome in the original study design treatment groups, prediction scores may not generalize to all patient samples, highlighting the importance of validating prediction scores in diverse samples., (Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.)

Background: Prior stroke within 3 months excludes patients from thrombolysis; however, patients may have computed tomography (CT) evidence of prior infarct, often of unknown time of origin. We aimed to determine if the presence of a previous infarct on pretreatment CT is a predictor of hemorrhagic complications and functional outcomes after the administration of intravenous (IV) tissue plasminogen activator (tPA)., Methods: We retrospectively analyzed consecutive patients treated with IV tPA at our institution from 2009-2011. Pretreatment CTs were reviewed for evidence of any prior infarct. Further review determined if any hemorrhagic transformation (HT) or symptomatic intracerebral hemorrhage (sICH) were present on repeat CT or magnetic resonance imaging. Outcomes included sICH, any HT, poor functional outcome (modified Rankin Scale score of 4-6), and discharge disposition., Results: Of 212 IV tPA-treated patients, 84 (40%) had evidence of prior infarct on pretreatment CT. Patients with prior infarcts on CT were older (median age, 72 versus 65 years; P=.001) and had higher pretreatment National Institutes of Health Stroke Scale scores (median, 10 versus 7; P=.023). Patients with prior infarcts on CT did not experience more sICH (4% versus 2%; P=.221) or any HT (18% versus 14%; P=.471). These patients did have a higher frequency of poor functional outcome at discharge (82% versus 50%; P<.001) and were less often discharged to home or inpatient rehabilitation center (61% versus 73%; P=.065)., Conclusions: Visualization of prior infarcts on pretreatment CT did not predict an increased risk of sICH in our study and should not be viewed as a reason to withhold systemic tPA treatment after clinically evident strokes within 3 months were excluded., (Published by Elsevier Inc.)

Background: Intravenous (IV) tissue plasminogen activator remains the only approved therapy for acute ischemic stroke (AIS) in the United States; however, less than 10% of patients receive treatment. This is partially because of the large number of contraindications, narrow treatment window, and physician reluctance to deviate from these criteria., Methods: We retrospectively analyzed consecutive patients who received IV thrombolysis at our stroke center for National Institute of Neurological Disorders and Stroke (NINDS) protocol violations and rates of symptomatic intracerebral hemorrhage (sICH). Other outcome variables included systemic hemorrhage, modified Rankin Scale at discharge, and discharge disposition., Results: A total of 212 patients were identified in our stroke registry between 2009 and 2011 and included in the analysis. Protocol violations occurred in 76 patients (36%). The most common violations were thrombolysis beyond 3 hours (26%), aggressive blood pressure management (15%), elevated prothrombin time (PT) or partial thromboplastin time (PTT) (6.6%), minor or resolving deficits (4.2%), unclear time of onset (3.9%), and stroke within 3 months (3%). There were no significant differences in any of the safety outcomes or discharge disposition between patients with or without protocol violations. Controlling for age, National Institutes of Health Stroke Scale on admission, and glucose on admission, there was no significant increase in sICH (odds ratio: 3.8; 95% confidence interval: .37-38.72) in the patients who had protocol violations., Conclusions: Despite more than one third of patients receiving thrombolysis with protocol violations, overall rates of hemorrhage remained low and did not differ from those who did not have violations. Our data support the need to expand access to thrombolysis in AIS patients., (Published by Elsevier Inc.)

Background: Systemic inflammatory response syndrome (SIRS) is an inflammatory process associated with poor outcomes in acute ischemic stroke (AIS) patients. However, no study to date has investigated predictors of SIRS in AIS patients treated with intravenous (IV) tissue plasminogen activator (tPA)., Methods: Consecutive patients were retrospectively reviewed for evidence of SIRS during their acute hospitalization. SIRS was defined as the presence of 2 or more of the following: (1) body temperature less than 36°C or greater than 38°C, (2) heart rate greater than 90, (3) respiratory rate greater than 20, or (4) white blood cell count less than 4000/mm or greater than 12,000/mm or more than 10% bands for more than 24 hours. Those diagnosed with an infection were excluded. A scoring system was created to predict SIRS based on patient characteristics available at the time of admission. Logistic regression was used to evaluate potential predictors of SIRS using a sensitivity cutoff of ≥65% or area under the curve of .6 or more., Results: Of 212 patients, 44 had evidence of SIRS (21%). Patients with SIRS were more likely to be black (61% versus 54%; P = .011), have lower median total cholesterol at baseline (143 versus 167 mg/dL; P = .0207), and have history of previous stroke (51% versus 35%; P = .0810). Ranging from 0 to 6, the SIRS prediction score consists of African American (2 points), history of hypertension (1 point), history of previous stroke (1 point), and admission total cholesterol less than 200 (2 points). Patients with an SIRS score of 4 or more were 3 times as likely to develop SIRS when compared with patients with a score of ≤3 (odds ratio = 2.815, 95% confidence interval 1.43-5.56, P = .0029)., Conclusions: In our sample of IV tPA-treated AIS patients, clinical and laboratory characteristics available on presentation were able to identify patients likely to develop SIRS during their acute hospitalization. Validation is required in other populations. If validated, this score could assist providers in predicting who will develop SIRS after treatment with IV tPA., (Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.)

Background: In 2008, the European Cooperative Acute Stroke Study-3 (ECASS-3) demonstrated that intravenous-tissue plasminogen activator could be safely administered for acute stroke patients presenting between 3 and 4.5 hours from symptom onset. Recently, the Food and Drug Administration rejected expansion of this time window in the United States. We sought to determine how many fewer patients would be treated by maintaining this restricted time window., Methods: We reviewed charts from patients who received intravenous thrombolysis at the University of Alabama at Birmingham between January 2009 and December 2011. Patients were divided into two groups (treated within 3 hours of onset, treated between 3 and 4.5 hours from onset). Demographics, stroke severity and protocol deviations according to the ECASS-3 trial were collected. Our safety measures were any hemorrhagic transformation, symptomatic intracerebral hemorrhage and systemic hemorrhage., Results: Two hundred and twelve patients were identified, of whom 192 were included in our analysis. A total of 36 patients (19%) were treated between 3 and 4.5 hours. No statistical differences were seen between age (p=0.633), gender (p=0.677), race (p=0.207) or admission stroke severity (p=0.737). Protocol deviations from the ECASS-3 criteria were found in 20 patients (56%). These were primarily age > 80 and aggressive blood pressure management. Despite these deviations, we did not see significant increases in the rates of adverse events in patients treated in the extended time window., Conclusions: Our data are consistent with previously reported international data that IV thrombolysis can safely be used up to 4.5 hours from symptom onset. Restricting the time window to 3 hours would have resulted in almost one-fifth fewer patients treated at our center.

Background and Purpose: Systemic inflammatory response syndrome (SIRS) is a generalized inflammatory state. The primary goal of the study was to determine whether differences exist in outcomes in SIRS and non-SIRS intravenous tissue-type plasminogen activator-treated patients., Methods: Consecutive patients were retrospectively reviewed for the evidence of SIRS during their admission. SIRS was defined as the presence of ≥2 of the following: body temperature<36°C or >38°C, heart rate>90, respiratory rate>20, and white blood cells<4000/mm or >12 000 mm, or >10% bands. Patients diagnosed with infection (via positive culture) were excluded., Results: Of the 241 patients, 44 had evidence of SIRS (18%). Adjusting for pre-tissue-type plasminogen activator National Institutes of Health Stroke Scale, age, and race, SIRS remained a predictor of poor functional outcome at discharge (odds ratio [OR], 2.58; 95% confidence interval [CI], 1.16-5.73; P=0.0197)., Conclusions: In our sample of tissue-type plasminogen activator-treated (tPA) patients, ~1 in 5 patients developed SIRS. Furthermore, we found the presence of SIRS to be associated with poor short-term functional outcomes and prolonged length of stay.

Background: Symptomatic intracerebral hemorrhage (sICH) remains the most feared complication of intravenous tissue plasminogen activator (IV tPA) treatment. We aimed to investigate how previously validated scoring methodologies would perform in treated patients in two US Stroke Belt states., Methods and Results: We retrospectively reviewed consecutive patients from two centers in two Stroke Belt states who received IV tPA (2008-2011). We assessed the ability of three models to predict sICH. sICH was defined as a type 2 parenchymal hemorrhage with deterioration in National Institutes of Health Stroke Scale (NIHSS) score of ≥4 points or death. Among 457 IV tPA-treated patients, 19 (4.2%) had sICH (mean age 68, 26.3% Black, 63.2% female). The Cucchiara model was most predictive of sICH in the entire cohort (AUC: 0.6528) and most predictive of sICH among Blacks (OR = 6.03, 95% CI 1.07-34.1, P = 0.0422) when patients were dichotomized by score., Conclusions: In our small sample from the racially heterogeneous US Stroke Belt, the Cucchiara model outperformed the other models at predicting sICH. While predictive models should not be used to justify nontreatment with thrombolytics, those interested in understanding contributors to sICH may choose to use the Cucchiara model until a Stroke Belt model is developed for this region.

Recovery room radiographs (RRR) are routinely performed after total knee arthroplasty (TKA). This study investigates the utility of these radiographs. Twenty four arthroplasty surgeons were surveyed to rank the value of RRRs. Since RRRs were primarily valued for educational purposes, we examined the ability of 49 orthopaedic trainees to determine the coronal alignment of TKA performed in cadaveric specimens based on these radiographs in neutral, 10° internal and external rotations. Surgeons rated the quality of the RRRs to be significantly lower than the radiographs taken in the radiology suite (5.5 ± 2.5 versus 8.9 ± 0.9, p < 0.0001). Of an estimated 65,910 TKAs performed by these surgeons, only eight cases (0.01%) required same day revision based on the RRR. Neutral alignment was significantly more accurately (p < 0.0001) interpreted than valgus or varus (69.4% versus 42.9% and 16.3%, respectively). Surprisingly, internal rotation of the limb significantly improved interpretation of both varus (from 16.3% to 40.8%, p = 0.014) and valgus (from 42.9% to 63.3%, p = 0.048). Increased level of orthopaedic training did not significantly affect the accuracy of interpretation (p = 0.46). Interpretation of RRRs for coronal malalignment is inaccurate and has a limited educational value.

Background: Vesico-vaginal Fistula (VVF) is an abnormal communication between bladder and vagina that causes continuous discharge of urine in to vaginal vault. The objective of this study is to describe current trends of aetiology and repair of Vesico-vaginal Fistulae. This is a Descriptive Study, conducted at Armed Forces Institute of Urology, Rawalpindi and Combined Military Hospital, Kharian between May 2001 and May 2007., Methods: All patients diagnosed as cases of vesico-vaginal fistulae were included in the study. Their demographic profile and repair success was determined., Results: A total of 86 patients were included in the study. The mean age of the patients was 35.5 years (range 25-46). Total abdominal hysterectomy was the most common cause (53% of the cases) followed by obstetric causes (43.92% of the cases). Success rate of the surgery in the study was 97.5%., Conclusion: The common causes of vesico-vaginal fistula in this study were total abdominal hysterectomy and obstetric causes. The success rate was high, yet the attempt should be made to prevent this socially distressing condition.

Thyroid nodules of follicular origin include neoplastic and non neoplastic processes. No methods of diagnosis or cytological features (obtained by fine-needle aspiration, FNA) may differentiate both types, and therefore differential diagnosis still constitutes a dilemma.We analyzed the existing association between clinical variables and methods of diagnosis in thyroid nodules of follicular type with the aim of defining risk of neoplasm. Ninety two patients with nodular goiters, of follicular origin by cytology, previously submitted to surgical treatment were analyzed. The studied variables were: sex, age, size of the nodule, ultrasound characteristics, cytological diagnosis, TSH level and results of the scintigraphy. Of 92 cases, 74 were neoplastic nodules (56 adenomas and 18 differentiated thyroid cancer) and 18 were non neoplastic nodules. Markers, that were related to high risk of follicular neoplasm corresponded to the cytological diagnosis of proliferation of high follicular degree, in iso or hypoechoic, and hypofunctioning nodules with I131. The carcinomas presented cytology of follicular proliferation of high degree, in hipoechoic nodules, of irregular edges with microcalcifications and hypofunctioning, in male patients or patients younger than 20 years. The presence of macrocalcifications and hypercaptation would be in favor of nodules of benign origin.The correlation of diagnostic methods and clinical variables in thyroid nodules of follicular type would allow us to differentiate the risk of neoplasm or carcinoma, and plan surgical selective treatments.

The clinical significance of papillary microcarcinoma of the thyroid gland keeps being controversial. Its high prevalence in autopsies and as incidental findings in thyroidectomy specimens for benign pathology indicate an indolent clinical behavior. Nevertheless some of the microcarcinomas develop lymph node metastasis and local recurrence. To determine the clinical and pathological characteristics of non-incidental papillary microcarcinomas of the thyroid (PTM -NI). 18 patients with diagnosis of non-incidental papillary microcarcinoma (tumor < or = 1 cm) with nodular expression in the thyroid gland or with lymph node metastasis have been studied. Initial diagnosis, prediction factors and evolution have been evaluated. Of 18 patients with PTM-NI, 12 demonstrated lymph node metastasis. 6 patients had positive fine needle aspiration (FNA) of palpable thyroid nodules. Multifocality and extraglandular extension were associated with lymph node metastasis. Seven of the nine metastatic lymph nodes diagnosed by FNA were cystic. Histologically 83.3% of the nodules in the thyroid were non-encapsulated and showed papillary growth pattern. Multifocality and extrathyroid infiltration were associated with lymph node metastasis at presentation. 46% of the patients with thyroid nodules > or = 4 mm and lymph node involvement (N1) showed recurrence/persistence. The non-incidental intrathyroideal papillary microcarcinoma without capsular involvement, extraglandular extension or lymph node metastasis (N0) did not demonstrate recurrence. These results suggest two groups of non- incidental papillary microcarcinoma of the thyroid (PMT-NI), one intraglandular without risk of evolution -N0- and other extraglandular at risk of recurrence -N1-.

Nine cases of esthesioneuroblastoma were studied; 5 males and 4 females, ages ranging from 13 to 75 years (mean 46). All had polypoid masses located in the nasal cavity and/or paranasal sinuses: 8 cases had a surgical resection and 1 a biopsy due to an unresectable tumor. Histologically, all were cellular tumors composed of small round cells growing in sheets or nests with a fibrillary background. Immunohistochemical studies showed positivity for neuron-specific enolase (9/9), S-100 protein (8/9), synaptophysin (7/9), chromogranin (6/9), neurofilaments (6/9), 013 (4/9), GFAP (1/9), cytokeratin (1/9), and negativity for desmina and CD 45. PCNA index showed three tumors with high proliferative activity (30-50%) and low in 6 cases (0-20%). DNA analysis revealed three diploid and six aneuploid tumors. One patient with an unresectable tumor died and the remaining 8 are alive with a mean follow up of 83 months (6 months to 22 years). We emphasize the utility of several antibodies in the diagnosis of esthesioneuroblastoma, the predominance of aneuploid tumors and the possible unfavorable prognostic value of diploid histograms.

Serum 5-nucleotidase enzyme activity and serum sialic acid concentrations were measured in 219 pregnant women to establish the incidence of cholestasis of pregnancy and the effect of rapid fetoplacental growth on serum sialic acid level. Serum 5-nucleotidase activity increases in diseases of the liver and obstruction of the biliary tract, whereas the level of serum sialic acid, a carbohydrate component of plasma membrane and cellular glycoproteins, rises in the presence of rapidly proliferating cells such as tumors. Serum 5-nucleotidase activity did not change between the first and the third trimesters of pregnancy. The elevation of serum 5-nucleotidase activity and of alkaline phosphatase in one case most likely indicated a cholestatic effect of pregnancy, and represented an incidence of 0.45% in the women studied. Among 201 cases, we found a graded and significant increase in the mean (+/- SD) serum sialic acid concentration with progressing pregnancy, from 1.63 +/- 0.3 mmol/L at the onset of pregnancy (five to eight weeks) to 2.06 +/- 0.49 at term; in the last stages of pregnancy, some of the values may overlap with those of cancer patients. We could not find any earlier report in the literature regarding the increase in serum sialic acid level in pregnancy.