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1.
Sensors (Basel) ; 22(24)2022 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-36560259

RESUMO

Inertial sensor-based human activity recognition (HAR) has a range of healthcare applications as it can indicate the overall health status or functional capabilities of people with impaired mobility. Typically, artificial intelligence models achieve high recognition accuracies when trained with rich and diverse inertial datasets. However, obtaining such datasets may not be feasible in neurological populations due to, e.g., impaired patient mobility to perform many daily activities. This study proposes a novel framework to overcome the challenge of creating rich and diverse datasets for HAR in neurological populations. The framework produces images from numerical inertial time-series data (initial state) and then artificially augments the number of produced images (enhanced state) to achieve a larger dataset. Here, we used convolutional neural network (CNN) architectures by utilizing image input. In addition, CNN enables transfer learning which enables limited datasets to benefit from models that are trained with big data. Initially, two benchmarked public datasets were used to verify the framework. Afterward, the approach was tested in limited local datasets of healthy subjects (HS), Parkinson's disease (PD) population, and stroke survivors (SS) to further investigate validity. The experimental results show that when data augmentation is applied, recognition accuracies have been increased in HS, SS, and PD by 25.6%, 21.4%, and 5.8%, respectively, compared to the no data augmentation state. In addition, data augmentation contributes to better detection of stair ascent and stair descent by 39.1% and 18.0%, respectively, in limited local datasets. Findings also suggest that CNN architectures that have a small number of deep layers can achieve high accuracy. The implication of this study has the potential to reduce the burden on participants and researchers where limited datasets are accrued.


Assuntos
Inteligência Artificial , Redes Neurais de Computação , Humanos , Aprendizado de Máquina , Atividades Humanas , Reconhecimento Psicológico
2.
Niger J Clin Pract ; 24(6): 808-813, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34121726

RESUMO

BACKGROUND: Mean platelet volume (MPV) is associated with cardiovascular morbidity and mortality in type 2 diabetic patients. However, the effects of blood glucose regulation and treatment regime on MPV has not been adequately studied in type 2 diabetic patients. Aims: We studied the effects of blood glucose regulation and treatment regimen on mean platelet volume in Type 2 diabetic patients. SUBJECTS AND METHODS: A total of 232 diabetic patients who were admitted to the hospital in short intervals of 3 months in the last 2 years were included in the study. When the second admission HbA1c was greater than the first admission HbA1c, they were classified as being in the deteriorated blood glucose regulation group, otherwise they were classified in the improved blood glucose regulation group. Also, the deteriorated and improved blood glucose regulation groups were classified based on therapy modalities as the sulfonylurea + metformin group and the insulin + metformin group. Paired t-test was used for comparison of the groups. RESULTS: Of the 232 patients, 98 (42.2%) were male and 134 (57.8%) were female. There were 126 (55.2%) patients using sulfonylurea + metformin, while 106 (44.8%) patients were using insulin + metformin. MPV levels were significantly increased in patients with deteriorating glucose regulation (p = 0.003). This increase in MPV was only seen in the oral hypoglycemic treatment group (p = 0.003). CONCLUSIONS: Our results suggested a close relationship between poor glycemic control and increased platelet activity in type 2 diabetic patients with oral antidiabetic therapy when compared to the insulin and metformin therapy modality.


Assuntos
Diabetes Mellitus Tipo 2 , Metformina , Glicemia , Diabetes Mellitus Tipo 2/tratamento farmacológico , Feminino , Hemoglobinas Glicadas/análise , Humanos , Hipoglicemiantes/uso terapêutico , Masculino , Volume Plaquetário Médio , Metformina/uso terapêutico
3.
Acta Endocrinol (Buchar) ; 14(1): 43-48, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-31149235

RESUMO

CONTEXT: Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer due to its high fibrotic content; it can affect the blood flow resistance. OBJECTIVE: To introduce duplex Doppler ultrasonography (DDUS) parameters of papillary thyroid carcinoma (PTC) and their correlation with size. DESIGN: The study was designed as a prospective study. SUBJECTS AND METHODS: Thyroid nodules of the patients who were already scheduled for thyroid surgery either for malignant thyroid nodules or multinodular goiter were evaluated for DDUS parameters. Size, systolic to diastolic flow velocity (S/D) ratio, pulsatility index (PI), and resistive index (RI) of each nodule were recorded. Nodules were diagnosed as PTC or benign nodules based on histopathology. DDUS parameters were compared between PTCs versus benign nodules and micro PTCs (≤ 10 mm) versus large PTCs (> 10 mm). A correlation analysis was performed between the size and DDUS parameters. RESULTS: 140 thyroid nodules (30 PTCs, 110 benign nodules) were obtained. The mean S/D ratio, PI, and RI values were significantly higher in PTC than in benign nodules (p values were 0.0001, 0.0003, and 0.0001 respectively). The optimal cut-off values of S/D (0.732), PI (0.732), and RI (0.738) had accuracy rates of 71%, 69%, and 69%, respectively. There was no statistically significant difference between micro PTC and large PTC with regards to DDUS parameters. The size and DDUS parameters of PTC showed no significant correlation. CONCLUSIONS: PTC has a high resistive flow pattern regardless of its size; however the clinical utility of DDUS to differentiate a PTC from benign nodule is limited.

5.
J Eur Acad Dermatol Venereol ; 29(2): 367-370, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24854673

RESUMO

BACKGROUND: Recent evidence suggests that oxidative stress may be an important phenomenon in the pathophysiology of rosacea. Paraoxonase-1 (PON1) is an antioxidant enzyme with three activities: paraoxonase, arylesterase and dyazoxonase. In this study, we evaluated serum paraoxonase and arylesterase activities, and serum lipid hydroperoxide (LOOH) levels in patients with rosacea in comparison to healthy controls. MATERIAL AND METHOD: The study included 39 rosacea patients and healthy controls, consisting of 40 age- and sex-matched healthy volunteers. Serum paraoxonase and arylesterase activities were measured using paraoxon and phenylacetate substrates. Serum LOOH levels were measured with the ferrous ion oxidation-xylenol orange assay. RESULTS: In rosacea group mean serum paraoxonase and arylesterase activities were 74.54 ± 38.30 U L(-1) and 141.29 ± 22.27 kU L(-1) respectively, which were significantly lower than controls (P = 0.010, 0.005; respectively). Mean serum LOOH level of rosacea group was 8.17 ± 1.91 µmol L(-1) which was significantly higher than controls (P = 0.009). There were no statistically significant differences between the clinical subtypes of the disease, menopause situation or ocular involvement with the respect to the serum paraoxonase and arylesterase activities and LOOH levels (all; P > 0.05). CONCLUSIONS: Serum PON1 enzyme activities have decreased significantly in rosacea. These findings support that decreased PON1 activity and increased oxidative stress may play a role in the pathogenesis of rosacea. Further studies are needed to elucidate the role of PON1 activity in the pathophysiology of rosacea.


Assuntos
Arildialquilfosfatase/sangue , Hidrolases de Éster Carboxílico/sangue , Rosácea/enzimologia , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Rosácea/sangue
6.
Spinal Cord ; 53 Suppl 1: S1-2, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25900281

RESUMO

STUDY DESIGN: Case series. OBJECTIVE: To present three cases of paraplegic patients with hypospadias and psychiatric comorbidities. SETTING: Ankara Physical Medicine and Rehabilitation Training and Research Hospital, Ankara, Turkey. CASES: Three spinal cord injured male patients with hypospadias are presented. All three patients had a history of psychiatric disorders that is thought to be a precipitating factor. CONCLUSION: This is the first report in the literature of three cases of hypospadias associated with indwelling catheter drainage and behavioral disturbance.


Assuntos
Cateteres de Demora/efeitos adversos , Hipospadia/etiologia , Hipospadia/cirurgia , Transtornos do Comportamento Social/etiologia , Traumatismos da Medula Espinal/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
7.
West Indian Med J ; 64(3): 283-5, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26426185

RESUMO

Heterotopic ossification is the formation of the lamellar bone where normally osseous tissue does not exist. Since heterotopic ossification can cause severe functional loss, it is a challenging condition for both clinicians and patients. Neurogenic heterotopic ossification is a rare condition after encephalitis. Likewise, in this paper, we have presented a challenging case of heterotopic ossification after viral encephalitis and functional outcomes after the management of heterotopic ossification.

8.
Minerva Endocrinol ; 39(2): 99-105, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24736484

RESUMO

AIMS: We aimed to investigate, circulating vaspin, apelin-12 and apelin-36 levels in subjects with metabolic syndrome (MetS) and also to search for the association of vaspin and apelin levels with insulin resistance (IR), high sensitivity C-reactive protein (HsCRP), Carotid Artery Intima-Media Thickness (CIMT) and cardiovascular risk factors. METHODS: In this observational case-control study, a total of forty one patients with MetS (30 women and 11 men mean age, 41.3±9.4 years) and thirty nine healthy comparison subjects (27 women and 12 men; mean age, 38.4±6.1 years) were enrolled. Serum HsCRP, lipid profile, insulin levels and the homeostasis model assessment of insulin resistance (HOMA-IR) were evaluated. Apelin-12, apelin-36 and vaspin serum levels were measured via ELISA. High-resolution B-mode ultrasonography was performed. RESULTS: The two study groups did not differ as to age, sex, blood pressure, smoking history. Vaspin, apelin-12 and apelin-36 levels were significantly elevated in patients with MetS when compared with that of control subjects (P<0.001). Serum vaspin levels showed a statistically significant association with CIMT (r=0.365, P<0.001) and HsCRP (r=0.316, P<0.01) levels, whereas both serum apelin-12 and 36 levels were positively correlated with HOMA-IR (r=0.344/0.462 P<0.01). CONCLUSION: Based on the findings of this study, Serum vaspin and apelin levels were found significantly higher in patients with MetS than age-matched control subjects and significantly associated with coronary atherosclerosis. These adipocytokines might play a part in the pathogenesis of MetS. Also serum Apelin levels can be used as specific markers for insulin sensitivity in patients with MetS.


Assuntos
Espessura Intima-Media Carotídea , Doença da Artéria Coronariana/complicações , Resistência à Insulina , Peptídeos e Proteínas de Sinalização Intercelular/sangue , Síndrome Metabólica/complicações , Serpinas/sangue , Adipocinas/sangue , Adulto , Apelina , Biomarcadores/sangue , Índice de Massa Corporal , Proteína C-Reativa/metabolismo , Estudos de Casos e Controles , Doença da Artéria Coronariana/sangue , Doença da Artéria Coronariana/diagnóstico por imagem , Progressão da Doença , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Lipídeos/sangue , Masculino , Síndrome Metabólica/sangue , Síndrome Metabólica/diagnóstico por imagem , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Fatores de Risco , Sensibilidade e Especificidade , Inibidores de Serina Proteinase/farmacologia
9.
Turk J Pediatr ; 55(1): 104-6, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23692843

RESUMO

Bezoar is the accumulation of indigestible foreign substances in the digestive tract and a rare cause of intestinal obstruction in children. The accumulation of stones within the digestive system is called lithobezoar, and the colon is the rarest site for accumulation. A 13-year-old female patient was admitted to our hospital with colicky abdominal pain and constipation. She had been unable to pass her stool for the last six days and had passed stones-containing stools previously. She had a history of pica and iron-deficient anemia. The case is presented to discuss the diagnostic and therapeutic features of partial colonic obstruction secondary to colonic lithobezoar accumulation.


Assuntos
Bezoares/complicações , Colo , Obstrução Intestinal/etiologia , Adolescente , Anemia Ferropriva/epidemiologia , Bezoares/epidemiologia , Comorbidade , Feminino , Humanos , Obstrução Intestinal/epidemiologia
10.
Eur Rev Med Pharmacol Sci ; 27(18): 8324-8329, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37782149

RESUMO

OBJECTIVE: The aim of this study is to examine the effects of omega-3 supplementation on Catalase (CAT) activity, Malondialdehyde (MDA), advanced oxidation protein products (AOPP) and reduced glutathione (GSH) levels in long-term aerobic exercises in rats. MATERIALS AND METHODS: 28 male Wistar albino rats (8 weeks old, 220-350 g body weight) were included in the study. The rats were given treadmill exercise for 20 minutes at an average speed of 15 cm/s, 5 days a week, for 8 weeks. The experiment was terminated at the end of the eighth week. Blood samples were taken. CAT, MDA, AOPP and GSH analyses were performed. SPSS v. 21 package program was used in the analysis of the data. The distribution of the data was examined with the normality homogeneity test, and it was determined that it was a normal distribution. As a result, the One-Way ANOVA test, one of the parametric tests, was used. Tukey test was used to determine the difference between groups. Significance levels were evaluated as (p < 0.05). RESULTS: Statistical analysis showed a statistically significant difference between groups in CAT, MDA and GSH levels (p < 0.05), while there were no differences between the groups in AOPP levels (p > 0.05). CONCLUSIONS: In the conclusion of the study, it was determined that omega-3 supplementation caused a decrease in MDA level, an increase in CAT activity and GSH level in rats exposed to chronic long-term exercise. Thus, it can be said that omega-3 supplementation in chronic long-term exercise will provide antioxidant protection against potential oxidative damage.


Assuntos
Antioxidantes , Ácidos Graxos Ômega-3 , Masculino , Ratos , Animais , Antioxidantes/farmacologia , Produtos da Oxidação Avançada de Proteínas , Ratos Wistar , Estresse Oxidativo , Ácidos Graxos Ômega-3/farmacologia
11.
Eur Arch Psychiatry Clin Neurosci ; 262(2): 173-7, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21725713

RESUMO

Association of some neurotropic viruses like Borna Disease virus and Herpes virus with schizophrenia is better explained. However, the role of West Nile virus (WNV) infection in schizophrenia is not well documented. Therefore, this study was performed to investigate possible association between schizophrenia and presence of antibodies and WNV RNA in schizophrenic patients. For this, 200 blood samples from patients with schizophrenia and 200 from control groups were collected in Istanbul, Turkey. WNV RNA was not detected in any of the 200 patients and 200 controls analyzed by real-time RT-PCR. One hundred and twelve sera of schizophrenic patients and 162 of controls were analyzed for the presence of IgG antibodies to WNV by a commercial IgG-ELISA (Euroimmun, Germany). Antibodies to WNV were detected in 6 schizophrenic patients and 5 controls. ELISA positive patients had antipsychotic therapy. The difference between groups in terms of seropositivity to WNV was not statistically significant (p = 0.887, p = 0.148). Known symptoms of schizophrenia were observed in these patients, and interestingly majority had close contact to cats in the past and come from agricultural area of Turkey where potential area of mosquitoes and bird habitat. In conclusion, the results of this study show that antibodies to WNV in people do not seem to be associated with schizophrenia. However, detecting antibodies to WNV in schizophrenic patients suggests that WNV infection should be considered in endemic areas as it may play role in psychiatric diseases.


Assuntos
Esquizofrenia/epidemiologia , Febre do Nilo Ocidental/epidemiologia , Febre do Nilo Ocidental/virologia , Vírus do Nilo Ocidental/patogenicidade , Anticorpos Antivirais/sangue , Distribuição de Qui-Quadrado , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Masculino , RNA Viral/análise , RNA Viral/genética , Esquizofrenia/sangue , Turquia/epidemiologia , Febre do Nilo Ocidental/sangue , Vírus do Nilo Ocidental/genética
12.
Molecules ; 17(1): 820-35, 2012 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-22269868

RESUMO

A chemoenzymatic approach towards benzoylated uronic acid building blocks has been investigated starting with benzoylated hexapyranosides using regioselective C-6 enzymatic hydrolysis as the key step. Two of the building blocks were reacted with the antiepileptic drug lamotrigine. Glucuronidation of lamotrigine using methyl (2,3,4-tri-O-benzoyl-α-D-glycopyranosyl bromide)uronate proceeded to give the N2-conjugate. However, lamotrigine-N2-glucuronide was most efficiently synthesised from methyl (2,3,4-tri-O-acetyl-α-D-glucopyranosyl bromide)uronate. Employing nitromethane as solvent with CdCO(3) as a base lamotrigine-N2 glucuronide was prepared in a high yield (41%). Also methyl (2,3-di-O-benzoyl-4-deoxy-4-fluoro-α-D-glucosyl bromide)uronate underwent N-glucuronidation, but the product was unstable, eliminating hydrogen fluoride to give the corresponding enoate conjugate.


Assuntos
Benzeno/química , Triazinas/síntese química , Ácidos Urônicos/química , Candida/metabolismo , Etanol/metabolismo , Lamotrigina , Espectroscopia de Ressonância Magnética , Triazinas/química , Ácidos Urônicos/síntese química
14.
J Laryngol Otol ; 136(8): 750-754, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34924066

RESUMO

OBJECTIVE: To determine histopathological changes in nasal mucosa associated with duration of nasal packing with Merocel tampons. METHODS: This study included 24 healthy rabbits, 6 rabbits per group. In group A, no tampon was applied. In group B, Merocel nasal tampons were applied and removed after 24 hours. In group C, the tampons were removed after 48 hours. In group D, the tampons were removed after 5 days. Specimens were obtained from the septum of each rabbit, including cartilage. Histopathological examination was performed. RESULTS: Significant differences were observed in terms of inflammatory infiltration and loss of cilia between groups A and B. Significant differences were also observed in terms of inflammatory infiltration, haematoma, cilia loss, epithelium dysplasia and cartilage degeneration between groups B and C. There were significant differences in terms of cilia loss, epithelium dysplasia and subepithelial fibrosis between groups C and D. Cartilage degeneration was mild in one animal in group B and in two animals in group C, and was moderate in four animals in group C. CONCLUSION: It is recommended that Merocel nasal tampons are removed within 48 hours to preserve nasal mucosal function. Keeping the pack longer may cause cartilage degeneration and other complications.


Assuntos
Hemostáticos , Tampões Cirúrgicos , Animais , Epistaxe/etiologia , Formaldeído , Mucosa Nasal/patologia , Septo Nasal , Álcool de Polivinil , Hemorragia Pós-Operatória/etiologia , Coelhos , Tampões Cirúrgicos/efeitos adversos
15.
Lupus ; 20(3): 308-10, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20921153

RESUMO

A rare case of systemic lupus erythematosus (SLE), with massive bilateral pleural effusions and generalized edema as the first manifestations, is reported. The patient was a previously healthy 13-year-old boy. He presented with a history of fever, lack of appetite, gradually increasing fatigue, cough, diffuse edema, and moderate dyspnea. He responded well to corticosteroids with resolution of the pleural effusions, and edema. SLE should always be kept in mind in cases of massive pleural effusions and/or diffuse edema, even in the absence of other clinical manifestations of the disease.


Assuntos
Edema/etiologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/patologia , Derrame Pleural/etiologia , Adolescente , Corticosteroides/uso terapêutico , Diagnóstico Diferencial , Edema/patologia , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Masculino , Derrame Pleural/tratamento farmacológico , Derrame Pleural/patologia
16.
Nanotechnology ; 22(29): 295704, 2011 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-21673384

RESUMO

We demonstrate high speed force-distance mapping using a double-pass scheme. The topography is measured in tapping mode in the first pass and this information is used in the second pass to move the tip over the sample. In the second pass, the cantilever dither signal is turned off and the sample is vibrated. Rapid (few kHz frequency) force-distance curves can be recorded with small peak interaction force, and can be processed into an image. Such a double-pass measurement eliminates the need for feedback during force-distance measurements. The method is demonstrated on self-assembled peptidic nanofibers.

18.
Bratisl Lek Listy ; 112(1): 13-7, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21452773

RESUMO

OBJECTIVES: To investigate the relation between hypertrophic pyloric stenosis (HPS) and the changes in the myoelectrical activity of the pyloric and gastric areas. METHODS: Three pregnant females, at 14 days of gestation two of which were named as D14n (NOS inhibitor group) and one was named as D14c (control). From the beginning of the study until the end of gestation, rats in D14n group received nitric oxide synthase inhibitor L-NAME for administrating their pups, and the rat in D14c group was drinking water for 21 days. The pups of each group underwent laparotomy at 42 days of their life and myoelectrical signals of their pyloric and gastric regions were recorded via bipolar electrodes and then evaluated through signal processing. RESULTS: Signal analysis showed that HPS induced pyloric segment reveals a suppressed spectral component that was detected in normal pyloric segment. The HPS induced pyloric segment also revealed higher power/ min and +/- SD compared to that of normal and gastric areas. In the pyloric segment, while the number of interstitial cells of Cajal (ICC) was lesser, the number of smooth muscle cells was higher than in the pyloric segment of controls. CONCLUSIONS: The spectral differentials depend on the type, population and condition of locally specialized muscular mechanism which can be affected from HPS. The HPS also has a relation to specific cells, such as ICC that generates NO, provoke the spontaneous pacemakers and biological slow waves (Tab. 1, Fig. 1, Ref. 19).


Assuntos
Complexo Mioelétrico Migratório/efeitos dos fármacos , NG-Nitroarginina Metil Éster/farmacologia , Estenose Pilórica Hipertrófica/fisiopatologia , Piloro/fisiopatologia , Animais , Inibidores Enzimáticos/farmacologia , Feminino , Óxido Nítrico Sintase/antagonistas & inibidores , Gravidez , Estenose Pilórica Hipertrófica/patologia , Piloro/patologia , Ratos , Ratos Wistar , Processamento de Sinais Assistido por Computador
19.
Ann Trop Paediatr ; 30(3): 229-31, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20828457

RESUMO

A 6-hour-old infant was admitted with severe respiratory distress and hepatosplenomegaly. Her mother had arthralgia for 4 weeks in the 7/8th month of pregnancy and the infant was born at 31 weeks. Brucella spp was detected in blood culture and serology in mother and infant, supporting the diagnosis of brucellosis with presumed transplacental transmission.


Assuntos
Brucella/isolamento & purificação , Brucelose/congênito , Brucelose/diagnóstico , Anticorpos Antibacterianos/sangue , Sangue/microbiologia , Feminino , Hepatomegalia/microbiologia , Hepatomegalia/patologia , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Síndrome do Desconforto Respiratório do Recém-Nascido/microbiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/patologia , Esplenomegalia/microbiologia , Esplenomegalia/patologia
20.
Genet Couns ; 21(3): 343-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20964127

RESUMO

Collodion baby is a rare keratinizing congenital disorder. Although it is milder in degree than harlequin fetus, the infant is at risk for increased water loss, thermal instability, percutaneous toxicity, and infection as a result of an impaired skin barrier function. Here we report on an 11 days-old collodion baby with hypernatremic dehydratation, septicemia and congenital hypothyroidism. To our knowledge congenital hypothyroidism associated with collodion baby is reported in only one case up to date.


Assuntos
Aberrações Cromossômicas , Genes Recessivos/genética , Hipotireoidismo/genética , Eritrodermia Ictiosiforme Congênita/genética , Consanguinidade , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Feminino , Humanos , Hipernatremia/diagnóstico , Hipernatremia/genética , Hipotireoidismo/diagnóstico , Eritrodermia Ictiosiforme Congênita/diagnóstico , Recém-Nascido , Fenótipo , Sepse/diagnóstico , Infecções Estafilocócicas/diagnóstico , Turquia
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