Mid-term radiological results of intra-articular penetration of the screw used in scaphoid surgery.

Background and Aim: Headless cannulated compression screw is often used in scaphoid fracture and nonunion surgery. In the volar and dorsal surgical approach, when adequate fluoroscopic imaging is not performed, the screw may protrude beyond the scaphoid bone and penetrate into the joint. When the length of the screw is too long, and it is noticed intraoperatively, it is replaced with a shorter screw. However, there is no clear consensus in the literature about the way to be followed when screw penetration is noticed in the postoperative period. Materials and Methods: The cases in which cannulated screw penetrated the radioscaphoid, scapholunate, and scaphotrapeziotrapezoid joint on postoperative radiographs were included in this study. Sixteen patients (13 men and 3 women) were included. The mean postoperative follow up time was 35.1 months. There was scaphotrapeziotrapezoid joint penetration in seven cases, scapholunate joint penetration in two cases, and radioscaphoid joint penetration in seven cases. Results: Osteoarthritis developed in the scapholunate joint in two cases and in the radioscaphoid joint in two cases. Early revision surgery or waiting for the fracture to heal and removing the screw, or not performing secondary surgery are among the options. In this study, mid term radiological results of screws penetrating radioscaphoid, scapholunate, and scaphotrapeziotrapezoid joints were examined. It was observed that it may cause osteoarthritis development in radioscaphoid and scapholunate joints, but it did not cause osteoarthritis development in scaphotrapeziotrapezoid joint. Conclusion: In the early postoperative period, revision surgery is recommended to prevent the development of osteoarthritis of screws penetrating the radioscaphoid and scapholunate joint.

Management of spaghetti wrist under WALANT technique.

This study aimed to evaluate the effectiveness of the WALANT technique in managing spaghetti wrist lacerations. Thirteen consecutive patients with spaghetti wrist laceration were operated on under WALANT technique and followed prospectively. All patients were operated on by the same hand surgeon in a university hospital setting. At the final follow-up, arterial patency, tendon repair, nerve regeneration, handgrip strength and overall patient satisfaction were assessed. All patients were male, with a mean age of 23.8 ± 7.7 years (range, 18-42). The mean waiting time from admission to operation was 33.6 ± 5.1 min (range, 26-42). The operation lasted a mean 119.6 ± 33.8 min (range, 75-185). Mean time from admission to discharge was 269.3 ± 35.0 min (range, 225-341). Mean VAS for intraoperative pain was 1.0 ± 0.9 points (range, 0-3). Patients were followed up for at least 6 months: mean 9.8 ± 1.6 months (range, 7-12). Ten of the 12 repaired arteries were patent and 2 were occluded at the final follow-up. Six of the 17 repaired nerves were evaluated as excellent, 9 as good and 2 as fair on 2-point discrimination test. Total active range of motion was perfect in 6 patients, good in 6, and fair in 1. Grip strength was averaged 86.8% (range, 76.9-93.5%) of the contralateral value. All patients were either very satisfied (n: 9) or satisfied (n: 4). The WALANT technique can be used for spaghetti wrist lacerations involving the tendons, arteries and nerves, with favorable outcome. Major arterial anastomosis can be performed without any surgical limitation.

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.

BACKGROUND: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world. METHODS: We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients. Data were analysed according to geographical region (Europe, USA/Canada, other). RESULTS: We analysed 166 responses. Long-term BH4 responsiveness was commonly defined using natural protein tolerance (95.6%), improvement of metabolic control (73.5%) and increase in quality of life (48.2%). When a specific value for a reduction in phenylalanine concentrations was reported (n = 89), 30% and 20% were most frequently used as cut-off values (76% and 19% of respondents, respectively). When a specific relative increase in natural protein tolerance was used to define long-term BH4 responsiveness (n = 71), respondents most commonly reported cut-off values of 30% and 100% (28% of respondents in both cases). Respondents from USA/Canada (n = 50) generally used less strict cut-off values compared to Europe (n = 96). Furthermore, respondents working within the same center answered differently. CONCLUSION: The results of this study suggest a very heterogeneous situation on the topic of defining long-term BH4 responsiveness, not only at a worldwide level but also within centers. Developing a strong evidence- and consensus-based definition would improve the quality of BH4 treatment.

Correction to: PKU dietary handbook to accompany PKU guidelines.

An amendment to this paper has been published and can be accessed via the original article.

PKU dietary handbook to accompany PKU guidelines.

BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. MAIN BODY: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment. CONCLUSION: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.

Prenatal Diagnosis of Organic Acidemias at a Tertiary Center.

The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gestational week of IPNDT, prenatal test indications, OA types, method of IPNDT, IPNDT results and gestational outcomes were evaluated. Targeted mutation analysis was performed in fetal DNA for the specific mutations by using polymerase chain reaction (PCR) and direct Sanger sequencing. The diagnosis was confirmed by genetic targeted mutation analysis after birth. Median maternal age, parity and gestational week of IPNDT values were 30 (range 21-35), one (range 0-4) and 11.5 (range 11-17), respectively. Indications for IPNDT were mother being a carrier of the disease for one case (10.0%) and at least one child with OA in the family for nine cases (90.0%). Organic acidemia types investigated were maple syrup urine disease (MSUD), methylmalonic acidemia (MMA) and isovaleric acidemia (IVA) in five (50.0%), three (30.0%) and two (20.0%) patients, respectively. Chorion villus sampling (CVS) was done in seven (70.0%) patients and amniocentesis was performed in three (30.0%) patients. Eight fetuses (80.0%) were found to be healthy and two fetuses (20.0%) were found to be affected (one case with IVA and one case with MMA). The two pregnancies (20.0%) with affected fetuses were terminated. Prenatal diagnosis of OAs is critical. Appropriate prenatal counseling should be given to families with known risk factors.

Adipocytokine levels of colon cancer patients before and after treatment.

AIMS AND BACKGROUND: In the present study, we investigated the associations between pre- and post-treatment levels of adiponectin, ghrelin, resistin, visfatin and leptin levels in malign and benign groups. METHODS AND STUDY DESIGN: 20 malign colon carcinoma groups and 20 benign groups were included in this study. Serum levels of leptin, adiponectin, resistin, ghrelin, and visfatin were measured by Elisa kits (Milipore Corporation, Billerica, MA, USA). RESULTS: In the malign group, serum ghrelin (71.90±23.7) levels significantly decreased (p<0.05) when compared to those in the benign (88.00±16.9) group. However, serum resistin (4.92±2.2, 3.39±1.1) levels increased statistically significantly (p<0.05). In the malign group, serum visfatin (0.85±0.6, 0.83±0.5), adiponektin (60.31±23.1, 56.39±25.9) and leptin (3.08±1.4, 3.74±1.3) levels were not statistically significantly different from those in the benign group. In the malign treatment group, serum adiponectin (102.64±50.3, 66.64±27.0) levels were increased significantly (p<0.05); however, serum visfatin (1.17±0.9, 0.68±0.3), ghrelin (85.52±29.5, 82.18±18.0), leptin (5.65±2.8, 3.16±1.1), and resistin (5.96±2.8, 5.65±1.7) levels did not change significantly (p<0.05) compared to those in the respective benign treatment group. CONCLUSIONS: We showed that adipocytokines were involved in the carcinogenic process. The present results suggest that resistin and ghrelin may be important biomarkers of colon cancer. Furthermore, an in vitro study will also be necessary to evaluate the direct function of these adipocytokines in cancer cells. In addition, it will be appropriate to conduct new studies with a large number of patients at different stages (Tab. 1, Fig. 2, Ref. 24).

An update on serine deficiency disorders.

Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive polyneuropathy in adult patients. There are three defects that cause serine deficiency of which 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, the defect affecting the first step in the pathway, has been reported most frequently. The other two disorders in L-serine biosynthesis phosphoserine aminotransferase (PSAT) deficiency and phosphoserine phosphatase (PSP) deficiency have been reported only in a limited number of patients. The biochemical hallmarks of all three disorders are low concentrations of serine in cerebrospinal fluid and plasma. Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of neurometabolic disorders. The use of age-related reference values for serine in CSF and plasma can be of great help in establishing a correct diagnosis of serine deficiency, in particular in newborns and young children.

Increased responses to the actions of fibroblast growth factor 21 on energy balance and body weight in a seasonal model of adiposity.

The present study aimed to investigate the actions of fibroblast growth factor 21 (FGF21) on energy balance in a natural model of relative fatness, the Siberian hamster. Hamsters were studied under long days (LD) to promote weight gain, or short days to induce weight loss, and treated with rhFGF21 (3 mg/kg/day) via s.c. minipumps for 14 days. On days 7-9, detailed assessments of ingestive behaviour, metabolic gas exchange and locomotor activity were made. FGF21 caused substantial (P < 0.0001) weight loss in the fat LD state but not in the lean SD state: at the end of the study, FGF21-treated hamsters in LD lost 18% of body weight compared to vehicle controls, which is comparable to the natural body weight loss observed in SD. Epididymal fat pads, a correlate of total carcass fat content, were reduced by 19% in FGF21 treated hamsters in LD, whereas no difference was found in SD. Body weight loss in LD was associated with a reduction in food intake (P < 0.001) and a decreased respiratory exchange ratio (P < 0.001), indicating increased fat oxidation. Treatment with FGF21 maintained the normal nocturnal increase in oxygen consumption and carbon dioxide production into the early light phase in hamsters in LD, indicating increased energy expenditure, although locomotor activity was unaffected. These data suggest a greater efficacy of FGF21 in hamsters in LD compared to those in SD, which is consistent with both the peripheral and possibly central actions of FGF21 with respect to promoting a lean phenotype. The observed differences in FGF21 sensitivity may relate to day length-induced changes in adipose tissue mass.

Antibiotic Fermentation Broth Treatment by a pilot upflow anaerobic sludge bed reactor and kinetic modeling.

In this study, an upflow anaerobic sludge blanket (UASB) mesophilic reactor was used to remove antibiotic fermentation broth wastewater. The hydraulic retention time was held constant at 13.3 days. The volumetric organic loading value increased from 0.33 to 7.43 kg(COD)m(-3)d(-1) using antibiotic fermentation broth wastewater gradually diluted with various ratios of domestic wastewater. A COD removal efficiency of 95.7% was obtained with a maximum yield of 3,700 L d(-1) methane gas production. The results of the study were interpreted using the modified Stover-Kincannon, first-order, substrate mass balance and Van der Meer and Heertjes kinetic models. The obtained kinetic coefficients showed that antibiotic fermentation broth wastewater can be successfully treated using a UASB reactor while taking COD removal and methane production into account.

Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.

Hemophagocytic lymphohistiocytosis (HLH) may develop secondary to infections, malignancies, immune deficiency syndromes, and rheumatologic and metabolic disorders. Associations between HLH and inborn errors of metabolism, including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, have previously been reported in the literature. In this report the authors present 3 children with disorders of propionate metabolism--1 with methylmalonic acidemia and 2 with propionic acidemia--who developed secondary HLH during their metabolic attacks. All patients fulfilled the 5 HLH criteria of the Histiocyte Society. Familial HLH was ruled out by molecular analysis. Plasma exchange was performed for 2 of them. Unfortunately 1 died of multiorgan failure despite intensive therapy. This is the first report of such an association.

A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene.

Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder of zinc deficiency due to an abnormal intestinal zinc transporter. It is characterized by the triad of acral dermatitis, alopecia, and diarrhoea. Once AE is correctly diagnosed, patients are treated with orally administered zinc sulphate. In some patients, relapses occur during adolescence, despite the regular treatment. Here, we discuss the clinical and molecular features of a 13-year-old adolescent girl with acrodermatitis enteropathica who was resistant to high-dose zinc sulphate therapy. We successfully treated the patient with zinc gluconate and vitamin C, and we detected a novel homozygous c.541_551dup (p.Leu186fsX38) mutation in the exon 3 of her SLC39A4 gene.

Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder caused by defective cellular carnitine transport. Patients usually present with predominant metabolic or cardiac manifestations. SCD is caused by mutations in the organic cation/carnitine transporter OCTN2 (SLC22A5) gene. Mutation analysis of SLC22A5 gene was carried out in eight Turkish patients from six families. Six patients presented with signs and symptoms of heart failure, cardiomyopathy, and low plasma carnitine levels, five of them with concurrent anemia. A patient with dilated cardiomyopathy had also facial dysmorphia, microcephaly, and developmental delay. Tandem MS analyses in siblings of the patients revealed two more cases with low plasma carnitine levels. SCD diagnosis was confirmed in these two cases by mutation screening. These two cases were asymptomatic but echocardiography revealed left ventricular dilatation in one of them. Carnitine treatment was started before the systemic signs and symptoms developed in these patients. Mean value of serum carnitine levels of the patients was 2.63±1.92µmol/L at the time of diagnosis. After 1year of treatment, carnitine values increased to 16.62±5.11 (p<0.001) and all responded to carnitine supplementation clinically. Mutation screening of the OCTN2 gene study in the patients revealed two novel (p.G411V, p.G152R), and four previously identified mutations (p.R254X, p.R282X, p.R289X, p.T337Pfs12X). Early recognition and carnitine supplementation can be lifesaving in this inborn error of fatty acid oxidation.

Diffusion-weighted magnetic resonance imaging for the detection of ischemic brain lesions in coronary artery bypass graft surgery: relation to extracorporeal circulation and heparinization.

AIM: Cognitive decline is a well recognized complication after on-pump coronary artery bypass graft (CABG) surgery. We investigated whether the design of extracorporeal circulation (ECC) and the extent of perioperative heparinization have an impact on neurological dysfunction. METHODS: Sixty-three CABG surgery patients were randomly perfused with an uncoated ECC-set (group A) or with two different heparin-coated ECC-sets (groups B and C). In groups A and B, systemic heparin was given in doses of 400 IU/kg body weight, whereas group C received 150 IU/kg body weight. ECC sets in group C included a diagonal pump and low priming as opposed to roller pumps in groups A and B. Furthermore, in group C blood contact to surfaces other than endothelium and heparin coated material was eliminated. Brain lesions were detected by diffusion-weighted magnetic resonance imaging (DWI). Neurological complications were assessed clinically until discharge (manifest motoric, sensitive or cognitive disturbance). Biochemical coagulation and inflammation parameters were measured pre-, peri-, and postoperatively. RESULTS: No major neurological events were observed in either group until discharge. DWIs showed 61 new lesions in 19 of 45 patients who terminated all MRI study procedures. Number and volume of the lesions did not differ between groups (P>0.05). Biochemical and inflammatory parameters showed the expected time courses and variations between groups. CONCLUSION: Ischemic brain lesions are frequently observed in CABG surgery patients but are neither associated with clinically relevant neurological complications nor with ECC set-up and intraoperative heparin dosage. DWI may help in the development of new surgical strategies to reduce postoperative brain damage.

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with tyrosinemia type I. In addition, clinical and biochemical findings were evaluated to establish a genotype-phenotype relationship in the patients. Mutation screening was performed using a 50K custom-designed resequencing microarray chip (TR_06_01r520489, Affymetrix) and sequencing analysis. Of the 12 different mutations found, 6 are categorized as novel. Three of the mutations-IVS6-1G>A, D233V, and IVS3-3C>G-are the most common in Turkish patients, comprising 25%, 17.1%, and 12.5% of mutant alleles, respectively.Clinical evaluations suggest that the spectrum of symptoms observed in the patients with very early and early disease were of the more nonspecific form, whereas the patients with late-presenting disease had more of the distinctive form over the course of the disease. This study adds support to the notion that the D233V mutation is specific to the Turkish population.

Evaluation of risk factors and severity of a life threatening surgical emergency: Fournier's gangrene (a report of 15 cases).

BACKGROUND: Fournier's gangrene is a rare, rapidly progressive, necrotising fasciitis of the external genitalia and perineum with high morbidity and mortality. PATIENTS & METHODS: 15 patients with Fournier's gangrene were enrolled. Gender, age, aetiology, predisposing factors, symptomatology, associated diseases, hospital stay, FGSI, and body surface area were analysed. RESULTS: Ten males and five females were enrolled in the study. The mean age was 54 years (range 23-81). E. coli and acinetobacter were the common organisms cultured. All patients were treated with a common approach of resuscitation, broad-spectrum antibiotics, and wide surgical excision. Common predisposing factors included diabetes mellitus (73.3%), poor personal hygiene (60%), obesity (33.3%), psychosis (20%) and decubitus ulcers (13.2%). Whereas five (33.3%) patients developed synergistic gangrene of the scrotum secondary to anorectal disease, five (33.3%) had a urological source of infection. Mean BSA and FSGI scores were 15.93 +/- 3.13 and 6.02 +/- 0.95, respectively. Serum glucose > 140 mg/dl, the existence of septic shock on admission, the spread of gangrene to the perineum and abdominal wall (Groups C and D), BSA > or = 24 cm2, a cutaneous source of infection and FGSI scores > or = 7 were factors affecting mortality rates with statistical significance (p < 0.05). There was a direct correlation between the culture of mixed type micro-organisms and the cutaneous source of infection (p < 0.05). The extent of gangrene correlated with higher FGSI scores (> or = 7) (p < 0.05). Mortality and morbidity rates were as 20% (n = 3) and 60% (n = 9). CONCLUSION: Aggressive surgical debridement and combined antibiotherapy are essential in the management of Fournier's gangrene. FGSI and BSA are useful to assess the severity and prognosis of the disease.

Use of the Static Granular Bed Reactor (SGBR) with anaerobic sludge to treat poultry slaughterhouse wastewater and kinetic modeling.

Poultry slaughterhouses discharge very high amount of wastewaters and these wastewaters can be treated successfully at a very low cost using anaerobic treatment. In this study, the Static Granular Bed Reactor (SGBR), a newly developed anaerobic process which is fully anaerobic granule, and another Static Granular Bed Reactor containing both anaerobic granular biomass and non-granular biomass were employed for the treatment of poultry slaughterhouse wastewater. The objective of the use of two reactors having different types of anaerobic biomass is to evaluate whether anaerobic sludge could be used effectively instead of anaerobic granule, which is much more difficult to obtain than the other during the start up period. Average COD removal efficiencies were greater than 95% for both of the reactors. Furthermore, Grau second-order and modified Stover-Kincannon models were successfully used to develop a kinetic model of the experimental data with a high correlation coefficient (R(2)>0.95).

Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.

D-2-hydroxyglutaric aciduria (D-2-HGA; OMIM 600721) is a rare autosomal recessive neurometabolic disorder with a wide clinical spectrum. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy with hypotonia, delayed cerebral visual development, cardiomyopathy and facial dysmorphic features. The mild phenotype has a more variable clinical expression with hypotonia and developmental delay. We present peripheral neuropathy as an additional clinical and electrophysiological feature in a 16-year-old boy with a homozygous missense mutation in exon 3 of the D-2-hydroxyglutarate dehydrogenase gene (D2HGDH) at position c.458T>C. This mutation results in replacement of a methionine residue, which was highly conserved during evolution, by threonine (p.Met153Thr).

L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.

L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomotor delay, cerebellar and extrapyramidal signs and subcortical leukoencephalopathy with basal ganglia and dentate nuclei involvement. Mutations in the gene L2HGDH ( C14ORF160/DURANIN/) have been identified as causative for L-2-HGA. A feature disproportionally associated with L-2-HGA is the development of malignant brain tumors. In our cohort of 40 patients with L-2-HGA, two developed medulloblastoma and glioblastoma multiforme during the course of the disease. Two missense mutations in two patients were identified in the L2HGDH gene in exon 3 (c.292C-->T) and in exon 7 (c.887T-->A). Both mutations were present in the homozygous state. Serial MR imaging findings as well as MR spectroscopy imaging is reported in a patient who developed glioblastoma multiforme.

Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?

The aim of this study was to compare the level of maternal knowledge and the blood phenylalanine (Phe) control in phenylketonuria (PKU; OMIM 261600). The study was conducted on 144 children (81 boys, 63 girls) with PKU, aged between 1 and 15 years, at Hacettepe University Ihsan Dogramaci Children's Hospital, Metabolism and Nutrition Unit. All subjects were treated with a low-Phe diet using a Phe-exchange system. A 20-question multiple-choice questionnaire was applied to the mothers to determine their knowledge about PKU and its dietary treatment. Questions in the test consisted of the knowledge about the disease (6 questions), general dietary knowledge (14 questions) and knowledge about specific exchange within the dietary questions (6 questions). The median blood Phe concentration for the previous 3-year period was used as an indicator of metabolic control. Eighty-seven children had a median blood Phe concentration above the MRC Working Party Guidelines. There was a negative correlation between maternal knowledge about exchange and median blood Phe concentration in the child (p<0.05). Maternal knowledge about a standard 15 mg Phe exchange system is correlated with dietary compliance as measured by blood Phe concentrations in our subjects. We would like to implement an easier method of measuring Phe exchanges to improve dietary knowledge in the mothers.