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1.
Pediatr Int ; 64(1): e14762, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33955624

RESUMO

BACKGROUND: Neonatal suppurative parotitis is a rare disease, characterized mainly by unilateral parotid swelling with erythema and tenderness, and often purulent discharge from the Stensen's duct into the oral cavity. Only 44 cases were reported in the English literature between 1970 and 2013. METHODS: A MEDLINE search was conducted using the terms acute, neonatal, newborn, suppurative, bacterial, purulent, parotitis, parotid swelling, and parotid abscess, limited to the English-language literature starting from 2011. We reviewed all reported cases, together with two more managed cases in our hospital. We also describe the magnetic resonance imaging findings of the early stage of this disease. RESULTS: We identified 26 new cases since 2011. The total number of patients reviewed was 72, including our patients. The infection was unilateral in 83% of patients, and 67% of the affected patients were males. The serum amylase levels were generally not elevated despite marked parotid swelling. Of the causative agents of this disease, 65% were Staphylococcus aureus, of which 19% were methicillin-resistant S. aureus. As the rate of cesarean section was high in patients with this disease, it was considered a risk factor. The diffusion-weighted magnetic resonance images showed multiple punctate hyperintensity regions with reduced apparent diffusion coefficient, suggesting microabscess formation in the affected gland. CONCLUSIONS: Acute suppurative parotitis should be considered in cases of swelling and tenderness in the parotid gland during the neonatal period. Multiple punctate hyperintensities in the parotid gland on the diffusion-weighted images may indicate a retrograde bacterial infection from the Stensen's duct.


Assuntos
Staphylococcus aureus Resistente à Meticilina , Parotidite , Infecções Estafilocócicas , Cesárea , Feminino , Humanos , Masculino , Parotidite/diagnóstico , Gravidez , Infecções Estafilocócicas/diagnóstico , Infecções Estafilocócicas/tratamento farmacológico , Staphylococcus aureus
2.
J Gen Virol ; 102(3)2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33587029

RESUMO

Since 2013, equine-like G3 rotavirus (eG3) strains have been detected throughout the world, including in Japan, and the strains were found to be dominant in some countries. In 2016, the first eG3 outbreak in Japan occurred in Tomakomai, Hokkaido prefecture, and the strains became dominant in other Hokkaido areas the following year. There were no significant differences in the clinical characteristics of eG3 and non-eG3 rotavirus infections. The eG3 strains detected in Hokkaido across 2 years from 2016 to 2017 had DS-1-like constellations (i.e. G3-P[8]-I2-R2-C2-M2-A2-N2-T2-E2-H2), and the genes were highly conserved (97.5-100 %). One strain, designated as To16-12 was selected as the representative strain for these strains, and all 11 genes of this strain (To16-12) exhibited the closest identity to one foreign eG3 strain (STM050) seen in Indonesia in 2015 and two eG3 strains (IS1090 and MI1125) in another Japanese prefecture in 2016, suggesting that this strain might be introduced into Japan from Indonesia. Sequence analyses of VP7 genes from animal and human G3 strains found worldwide did not identify any with close identity (>92 %) to eG3 strains, including equine RV Erv105. Analysis of another ten genes indicated that the eG3 strain had low similarity to G2P[4] strains, which are considered traditional DS-1-like strains, but high similarity to DS-1-like G1P[8] strains, which first appeared in Asia in 2012. These data suggest that eG3 strains were recently generated in Asia as mono-reassortant strain between DS-1-like G1P[8] strains and unspecified animal G3 strains. Our results indicate that rotavirus surveillance in the postvaccine era requires whole-genome analyses.


Assuntos
Gastroenterite/epidemiologia , Gastroenterite/virologia , Infecções por Rotavirus/epidemiologia , Infecções por Rotavirus/virologia , Rotavirus/genética , Pré-Escolar , Surtos de Doenças , Fezes/virologia , Feminino , Genoma Viral/genética , Genótipo , Humanos , Lactente , Japão/epidemiologia , Masculino , Filogenia , RNA Viral/genética , Vírus Reordenados/classificação , Vírus Reordenados/genética
3.
Clin Exp Nephrol ; 22(1): 167-172, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28634773

RESUMO

BACKGROUND: Dialysis patients often have low physical performance due to uremic sarcopenia, protein energy wasting (PEW), and incidence intradialytic hypotension (IDH), which are indicated as risk factors for falling. The objective of this study was to develop a symptom-encompassing evaluation form to predict falls with high sensitivity for dialysis patients. METHODS: A total of 251 patients who had been receiving maintenance hemodialysis therapy three times a week were enrolled in the study. Demographics, malnutrition and inflammatory status, dialytic therapeutic management situation, physical function and performance, and inquiries about falling were recorded. The Cox proportional hazards analysis evaluated the impact of falls. Calculated hazard ratios were converted to weighted scores, using approximate multiples of 0.5 and an evaluation form was created, which we called the Dialysis Fall Risk Index (DFRI). Kaplan-Meier survival analyses with the log-rank test and the Cox proportional hazard analysis were performed to evaluate the validity of the DFRI. RESULTS: The DFRI consisted of seven items and a total of 12 points. The predictive validity of DFRI included hazard ratios for quartile 3 and 4 of 2.65 and 3.84, respectively, compared with quartile 1 as a reference point. The cut-off point of the DFRI showed the highest sensitivity and specificity among other screening indices. DISCUSSION: The present study included the development of a new evaluation form that encompasses symptoms of end-stage kidney disease to predict falls in dialysis patients.


Assuntos
Acidentes por Quedas/estatística & dados numéricos , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Diálise Renal , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Incidência , Inflamação/complicações , Inflamação/epidemiologia , Estimativa de Kaplan-Meier , Falência Renal Crônica/epidemiologia , Masculino , Desnutrição/complicações , Desnutrição/epidemiologia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Prospectivos , Reprodutibilidade dos Testes , Medição de Risco , Fatores Socioeconômicos , Análise de Sobrevida
5.
Circ J ; 82(1): 247-250, 2017 12 25.
Artigo em Inglês | MEDLINE | ID: mdl-28845030

RESUMO

BACKGROUND: In the present study we used echocardiography to investigate coronary artery diameter at the time of diagnosis of Kawasaki disease (KD), before the start of treatment.Methods and Results:Diameters of the right, left main, left anterior descending, and left circumflex coronary arteries were determined in 410 patients before KD treatment commenced. The maximum Z-score was considered to be the pretreatment, maximum coronary artery Z-score (preZmax). The cumulative probability of coronary arterial dilatation was analyzed using the Kaplan-Meier method. In the present study, 31 patients (7.6%) had a preZmax ≥3.0, 56 (13.7%) had a preZmax ≥2.5, and 96 (23.4%) had a preZmax ≥2.0. The cumulative probability of a preZmax ≥2.0 was >20% on Day 5 of illness, 40% on Day 7, and 70% on Day 10. The positive predictive value (PPV) of a preZmax of 2.0 was approximately 0.9 on Day 5 of illness. CONCLUSIONS: The present study demonstrates that the coronary arteries may dilate before Day 5 of illness, and that the rate of dilatation increases gradually until Day 10. Because preZmax 2.0 has high PPV after Day 5 of illness, it is a useful marker of coronary artery dilatation in the early phase of KD.


Assuntos
Doença da Artéria Coronariana/etiologia , Vasos Coronários/patologia , Dilatação , Síndrome de Linfonodos Mucocutâneos/patologia , Adolescente , Criança , Pré-Escolar , Doença da Artéria Coronariana/prevenção & controle , Ecocardiografia , Feminino , Humanos , Lactente , Estimativa de Kaplan-Meier , Masculino , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Fatores de Tempo
7.
Pediatr Int ; 59(10): 1123-1125, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29081076

RESUMO

The sensitivity and specificity of a new rapid Mycoplasma pneumoniae antigen immunochromatography (IC) test, DK-MP-001, were determined using particle agglutination (PA) antibody response and loop-mediated isothermal amplification (LAMP) gene detection as the gold standard. Of 165 patients, 59 were diagnosed with M. pneumoniae infection based on a ≥fourfold rise of serum PA antibody during the course of the illness. Of the first visit swabs, 60 were positive for M. pneumoniae on LAMP, and 49 were positive for M. pneumoniae antigen on IC test. Compared with PA antibody and LAMP, the sensitivity/specificity of the IC test were 81.4% (48/59) and 99.1% (105/106); and 81.7% (49/60) and 100% (105/105), respectively. IC test detected antigen in pharyngeal swabs more sensitively than in nasal swabs for the same subjects (P < 0.05). The IC test performs well enough to be used with pharyngeal swabs at the first examination.


Assuntos
Cromatografia de Afinidade/métodos , Pneumonia por Mycoplasma/diagnóstico , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto Jovem
8.
Pediatr Infect Dis J ; 43(10): 953-958, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-38900074

RESUMO

BACKGROUND: Parainfluenza virus (PIV) is widely known as a causative virus of acute respiratory tract infections in children, and 4 serotypes (PIV-1-PIV-4) have been identified. The purpose of the present study was to clarify the clinical characteristics of the PIV serotypes in pediatric PIV infections in Japan. METHODS: Between April 2021 and October 2023, 8821 children aged <16 years who presented with respiratory symptoms underwent multiplex polymerase chain reaction analyses at the Department of Pediatrics, NTT Medical Center Sapporo. All 1490 cases in which PIV was detected were analyzed for their clinical characteristics by PIV serotypes. RESULTS: Of the 1490 cases, 608 were positive for a single PIV serotype: 91 (13.5%) for PIV-1, 54 (4.8%) for PIV-2, 361 (62.1%) for PIV-3 and 102 (19.6%) for PIV-4. The median ages were 3.5 years for PIV-1, 5.4 years for PIV-2, 1.9 years for PIV-3 and 2.2 years for PIV-4, with a significantly older age for PIV-2. Compared with the other serotypes, croup was significantly more common in PIV-1 and lower respiratory tract infection was significantly more common in PIV-4. Of the 608 cases with a single PIV serotype, 114 were hospitalized. The proportion of hospitalized patients was higher for PIV-4 than for the other PIV serotypes, but the difference was not significant. CONCLUSIONS: Lower respiratory tract infection was more frequent in PIV-4 than in the other PIV serotypes, and PIV-4 infection may increase the risk of hospitalization.


Assuntos
Infecções por Paramyxoviridae , Infecções Respiratórias , Sorogrupo , Humanos , Pré-Escolar , Japão/epidemiologia , Criança , Masculino , Feminino , Lactente , Infecções Respiratórias/virologia , Infecções Respiratórias/epidemiologia , Adolescente , Infecções por Paramyxoviridae/epidemiologia , Infecções por Paramyxoviridae/virologia , Infecções por Rubulavirus/virologia , Infecções por Rubulavirus/epidemiologia , Vírus da Parainfluenza 1 Humana/genética
9.
Front Microbiol ; 15: 1430557, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39050631

RESUMO

In the 2010s, several unusual rotavirus strains emerged, causing epidemics worldwide. This study reports a comprehensive molecular epidemiological study of rotaviruses in Japan based on full-genome analysis. From 2014 to 2019, a total of 489 rotavirus-positive stool specimens were identified, and the associated viral genomes were analyzed by next-generation sequencing. The genotype constellations of those strains were classified into nine patterns (G1P[8] (Wa), G1P[8]-E2, G1P[8] (DS-1), G2P[4] (DS-1), G3P[8] (Wa), G3P[8] (DS-1), G8P[8] (DS-1), G9P[8] (Wa), and G9P[8]-E2). The major prevalent genotype differed by year, comprising G8P[8] (DS-1) (37% of that year's isolates) in 2014, G1P[8] (DS-1) (65%) in 2015, G9P[8] (Wa) (72%) in 2016, G3P[8] (DS-1) (66%) in 2017, G1P[8]-E2 (53%) in 2018, and G9P[8] (Wa) (26%) in 2019. The G1P[8]-E2 strains (G1-P[8]-I1-R1-C1-M1-A1-N1-T1-E2-H1) isolated from a total of 42 specimens in discontinuous years (2015 and 2018), which were the newly-emerged NSP4 mono-reassortant strains. Based on the results of the Bayesian evolutionary analyses, G1P[8]-E2 and G9P[8]-E2 were hypothesized to have been generated from distinct independent inter-genogroup reassortment events. The G1 strains detected in this study were classified into multiple clusters, depending on the year of detection. A comparison of the predicted amino acid sequences of the VP7 epitopes revealed that the G1 strains detected in different years encoded VP7 epitopes harboring distinct mutations. These mutations may be responsible for immune escape and annual changes in the prevalent strains.

10.
Circ J ; 77(8): 2097-101, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23615024

RESUMO

BACKGROUND: Serum N-terminal pro-brain natriuretic peptide (NTproBNP) is often elevated in patients with acute Kawasaki disease (KD), but the NTproBNP level in normal children is higher than in adults. Thus, characterization of the normal levels and cut-off values of NTproBNP according to age is warranted for proper diagnosis of acute KD in children. METHODS AND RESULTS: Six hundred and fifty-five patients aged 1 month-15 years (median, 2.9 years) were included. Patients were admitted to the NTT East Japan Sapporo Hospital between October 2007 and October 2011. Serum NTproBNP level was examined in 149 patients with KD (median, 2.1 years) and 506 control patients with acute infectious disease (median, 3.2 years). In the control group, a Z-score curve of NTproBNP was generated for each age group using least mean square-based methods. The Z-score distribution of KD patients was then compared with that of the control group. The specificity and sensitivity of NTproBNP for diagnosing acute KD were 97.8% and 47.0%, respectively, at Z-score >2.0. Additionally, simple cut-offs every 100 pg/ml according to age were established for more convenient use at the bedside. CONCLUSIONS: The Z-score curve for NTproBNP in children was characterized. A Z-score >2.0 or the cut-off for children may be used to diagnose acute KD.


Assuntos
Síndrome de Linfonodos Mucocutâneos/sangue , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos/sangue , Doença Aguda , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
11.
Sci Rep ; 12(1): 8069, 2022 05 16.
Artigo em Inglês | MEDLINE | ID: mdl-35577904

RESUMO

A more rapid and less complicated test to diagnose pertussis is required in clinical settings. We need to detect Bordetella pertussis, which mainly causes pertussis, as early as possible, because pertussis is more likely to become severe in infants, and people around them can easily become a source of infection due to its strong infectivity. Nevertheless, methods that can detect B. pertussis rapidly and efficiently are lacking. Therefore, we developed a new immunochromatographic antigen kit (ICkit) for the early diagnosis of pertussis. The ICkit detects B. pertussis antigens in a nasopharyngeal swab without equipment and provides the result in about 15 min with a simple procedure. Additionally, a prospective study to evaluate the ICkit was conducted in 11 medical institutions, involving 195 cases with suspected pertussis. Compared with the real-time polymerase chain reaction (rPCR), the sensitivity and specificity of the ICkit were 86.4% (19/22) and 97.1% (168/173), respectively. The ICkit detected the antigen in both children and adults. Furthermore, the ICkit detected the antigen until the 25th day from the onset of cough, when rPCR detected the antigen. Thus, the ICkit demonstrated a high correlation with rPCR and would help diagnose pertussis more rapidly and efficiently.


Assuntos
Bordetella pertussis , Coqueluche , Adulto , Bordetella pertussis/genética , Criança , Tosse/complicações , Humanos , Lactente , Nasofaringe , Estudos Prospectivos , Reação em Cadeia da Polimerase em Tempo Real , Coqueluche/diagnóstico
12.
Scand J Infect Dis ; 43(1): 47-54, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20854219

RESUMO

In this article we review the clinical characteristics and computed tomography (CT) findings in children with 2009 pandemic H1N1 influenza viral pneumonia. The medical charts of 88 children with pandemic H1N1 influenza virus infection, admitted to our hospital in Japan from 10 August to 28 December 2009, were reviewed; we compared the clinical features of these children with those of 61 children admitted with seasonal influenza A during the previous 3 seasons. Of 88 patients, 53 (60%) had radiographic findings consistent with pneumonia and 34 patients underwent a chest computed tomography (CT) scan. Pneumonia was a more frequent complication in children with pandemic H1N1 influenza compared with those with seasonal influenza (60% vs 11%; p < 0.001). The predominant CT findings were unilateral or bilateral multifocal consolidation (15/34; 44%) associated with ground-glass opacities in the peribronchovascular region. The second most common CT finding was unilateral diffuse consolidation or atelectasis in 1 or more lung zones (12/34; 35%). The chest CT findings of unilateral or bilateral multifocal consolidation often associated with ground-glass opacities were commonly seen in children with pandemic H1N1 influenza viral pneumonia. Atelectasis was seen in patients who required oxygen administration.


Assuntos
Vírus da Influenza A Subtipo H1N1/isolamento & purificação , Influenza Humana/complicações , Pulmão/diagnóstico por imagem , Pulmão/patologia , Pneumonia Viral/patologia , Criança , Pré-Escolar , Feminino , Hospitalização , Humanos , Lactente , Influenza Humana/patologia , Influenza Humana/virologia , Japão , Masculino , Tomografia Computadorizada por Raios X
13.
PLoS One ; 16(10): e0258694, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34648603

RESUMO

OBJECTIVES: Macrolides are generally considered to be the drugs of choice for treatment of patients with Mycoplasma pneumoniae infection. However, macrolide-resistant M. pneumoniae has been emerging since about 2000. The Smart Gene® system (MIZUHO MEDY Co., Ltd., Tosu, Japan) is a novel fully automated system for detection of pathogens using the method of quantitative polymerase chain reaction (qPCR) with QProbe (QProbe PCR). The entire procedure is completed within 50 min and the size of the instrument is small (15 x 34 x 30 cm). The purpose of this study was to evaluate the usefulness of the Smart Gene® system for detection of M. pneumoniae and detection of a point mutation at domain V of the 23S rRNA gene of M. pneumoniae. MATERIALS: Pharyngeal swab samples were collected from 154 patients who were suspected of having respiratory tract infections associated with M. pneumoniae. RESULTS: Compared with the results of qPCR, the sensitivity and specificity of the Smart Gene® system were 98.7% (78/79) and 100.0% (75/75), respectively. A point mutation at domain V of the 23S rRNA gene was detected from 7 (9.0%) of 78 M. pneumoniae-positive samples by the Smart Gene® system and these results were confirmed by direct sequencing. The minimum inhibitory concentrations of clarithromycin among the 5 isolates of M. pneumoniae with a point mutation at domain V of the 23S rRNA gene were >64 µg/ml and those among the 33 isolates without a mutation in the 23S rRNA gene were <0.0625 µg/ml. CONCLUSION: The Smart Gene® system is a rapid and accurate assay for detection of the existence of M. pneumoniae and a point mutation at domain V of the 23S rRNA gene of M. pneumoniae at the same time. The Smart Gene® system is suitable for point-of-care testing in both hospital and outpatient settings.


Assuntos
Claritromicina/farmacologia , Mycoplasma pneumoniae/isolamento & purificação , Pneumonia por Mycoplasma/diagnóstico , Mutação Puntual , RNA Ribossômico 23S/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , DNA Bacteriano/genética , DNA Ribossômico/genética , Feminino , Humanos , Lactente , Masculino , Testes de Sensibilidade Microbiana , Viabilidade Microbiana/efeitos dos fármacos , Pessoa de Meia-Idade , Mycoplasma pneumoniae/efeitos dos fármacos , Mycoplasma pneumoniae/genética , Faringe/microbiologia , Testes Imediatos , Kit de Reagentes para Diagnóstico , Reação em Cadeia da Polimerase em Tempo Real , Sensibilidade e Especificidade , Adulto Jovem
14.
Clin Pediatr Endocrinol ; 30(1): 49-52, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33446952

RESUMO

We described a three-year-old girl whose Chiari type 1 malformation associated with mosaic Turner syndrome disappeared after GH therapy. She was diagnosed with mosaic Turner syndrome at the age of 1 yr and 7 mo by a chromosomal analysis (G-band) for short stature and was treated with GH. Sagittal T1-weighted magnetic resonance imaging (MRI) performed before the start of GH demonstrated herniation of the cerebellar tonsils 7 mm below the foramen magnum into the cervical spinal cord. After the initiation of GH therapy, the growth in height was favorable and improved from 70.6 cm (-3.5 SD) to 92 cm (-1.5 SD) in 2 yr. An MRI examination 19 mo later showed the disappearance of Chiari type 1 malformation. GH therapy either exacerbates or ameliorates Chiari type 1 malformations associated with GH deficiency (GHD). Since Turner syndrome uses more GH than GHD, careful follow-up is required if the disease is associated with Chiari type 1 malformation.

15.
J Med Microbiol ; 70(6)2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34165424

RESUMO

We characterized 515 Mycoplasma pneumoniae specimens in Hokkaido. In 2013 and 2014, the p1 gene type 1 strain, mostly macrolide-resistant, was dominant and the prevalence of macrolide resistance was over 50 %. After 2017, the p1 gene type 2 lineage, mostly macrolide-sensitive, increased and the prevalence of macrolide resistance became 31.0 % in 2017, 5.3 % in 2018 and 16.3 % in 2019.


Assuntos
Macrolídeos/farmacologia , Mycoplasma pneumoniae/genética , Pneumonia por Mycoplasma/epidemiologia , Criança , Farmacorresistência Bacteriana/genética , Técnicas de Genotipagem/métodos , Humanos , Japão/epidemiologia , Mutação , Mycoplasma pneumoniae/classificação , Mycoplasma pneumoniae/efeitos dos fármacos , Nasofaringe/microbiologia , Pneumonia por Mycoplasma/tratamento farmacológico , Pneumonia por Mycoplasma/microbiologia , RNA Ribossômico 23S/genética
16.
J Exerc Rehabil ; 14(1): 113-117, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29511661

RESUMO

Nocturnal heart rate variability (HRV) is thought to reflect healthy recovery function of the autonomic nervous system. Although exercise is recommended for health promotion, exercise itself decreases HRV. We studied acute effect of daytime exercise on nocturnal HRV in 5 healthy adults (age, 22-40 years; 2 female subjects) without regular exercise habit. Using a treadmill, they performed 30-min walking at 4 km/hr and 30-min running at 9 km/hr from 11 a.m. on different days at an interval of 2 weeks. On these days and a day without exercise (control), Holter electrocardiograms were recorded from 9 a.m. for 24 hr. The amplitudes of low-frequency (LF, 0.04-0.15 Hz) and high-frequency (HF, 0.15-0.45 Hz) components of HRV were measured continuously by complex demodulation and were averaged over periods of 11:00-11:30 a.m., 3 hr after going to bed, and time in bed at night. Exercise intensities of the walking and running were at 10% to 44% and 55% to 67% of heart rate reserve, respectively. During exercise, heart rate increased and LF and HF amplitudes decreased with exercise intensity. Nocturnal heart rate and LF and HF amplitude, however, showed no consistent changes with exercise intensity and their averages on the days of walking and running did not differ significantly from those of the control day. In conclusion, 30-min walking and running exercises performed in the morning had no significant acute effects on nocturnal heart rate or HRV.

17.
J Pediatr Endocrinol Metab ; 31(3): 355-359, 2018 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-29425110

RESUMO

BACKGROUND: IGSF1 abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty. CASE PRESENTATION: Here, we report a case of a male patient who visited our hospital with a chief complaint of abdominal pain and short stature, in whom we identified a novel IGSF1 mutation. He was closely examined because of chronic constipation since infancy, persistent abdominal pain at 14 years of age and marked short stature (-4.7 standard deviation [SD] for normal Japanese boys). He was diagnosed with CCH. Decreased prolactin (PRL) secretion was also observed. IGSF1 analysis revealed a novel mutation at the splicing donor site (c.2065+1G>A) in intron 11. In silico analysis predicted this mutation to be a non-functional splice donor site. After thyroid hormone replacement, his thyroid function, constipation and growth rate improved. CONCLUSIONS: This is the first report of a patient in whom constipation and short stature led to a diagnosis of CCH with a novel IGSF1 mutation.


Assuntos
Hipotireoidismo Congênito/genética , Imunoglobulinas/genética , Proteínas de Membrana/genética , Mutação/genética , Dor Abdominal , Adolescente , Estatura , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/tratamento farmacológico , Constipação Intestinal , Terapia de Reposição Hormonal , Humanos , Íntrons/genética , Japão , Masculino , Puberdade Tardia/genética , Sítios de Splice de RNA/genética , RNA Mensageiro/genética , Estudos Retrospectivos , Análise de Sequência de DNA , Testículo/crescimento & desenvolvimento , Tiroxina/uso terapêutico
18.
Clin Pediatr Endocrinol ; 27(1): 45-51, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29403156

RESUMO

We describe the case of a short-statured 12-yr-old boy who developed a Chiari type 1 malformation associated with central sleep apnea after administration of high-dose GH therapy, which he had been receiving since the age of 10 yr and 4 mo. He responded well to GH therapy, and his height increased by 18.8 cm in 2 yr. At 12 yr and 4 mo of age, his mother reported that he had developed sleep apnea during the previous year and it had worsened over a month prior to presentation at our hospital. Otolaryngological examination did not reveal tonsillar or adenoidal hypertrophy. Polysomnography demonstrated severe central sleep apnea with an apnea-hypopnea index of 46.5/h. Sagittal T1-weighted magnetic resonance imaging (MRI) demonstrated herniation of the cerebellar tonsils 15 mm below the foramen magnum into the cervical spinal cord. Continuous positive airway pressure therapy initiated prior to performing neurosurgery was ineffective. Following uncomplicated foramen magnum decompression, his breathing pattern during sleep returned to normal. Sagittal MRI examination should be considered in patients who develop sleep apnea during/following administration of GH therapy.

19.
Kansenshogaku Zasshi ; 81(4): 363-9, 2007 Jul.
Artigo em Japonês | MEDLINE | ID: mdl-17695789

RESUMO

In basic studies on campylobacteriosis, we tested 53 strains from human diarrhea stools and 102 strains from chicken meat and feces obtained between 2002 and 2006 for drug sensitivity to different drugs and gene mutation in quinolone-resistant strains. 1) Of 15 drugs tested, all were resistant to one or more of the following 10 drugs: CEX, 99.4%: ABPC, 59.4%; NA, 40.6%; NFLX, 40.0%; TC and CPFX, 39.4%; PIPC, 38.1%; MINO, 30.3%; KM, 3.2%; and SM, 2.6%. 2) Of 155 drug-resistant strains, 28 (18.1%) were resistant to single drugs and 127 (81.9%) were resistant to multiple drugs. The most frequent pattern of multipledrug resistance was ABPC/PIPC/CEX, followed by ABPC/PIPC/CEX/TC/MINO/NA/NFLX/CPFX. 3) Mutation of GyrA (Thr86 --> Ile) was detected in 43 (97.7%) of 44 quinolone-resistant strains. We found that resistance to beta-lactams, quinolones, and tetracycline antibiotics was high, and most resistant strains were resistant to multiple drugs. We also found that most quinolone-resistant strains had GyrA mutation.


Assuntos
Campylobacter jejuni/efeitos dos fármacos , Campylobacter jejuni/genética , Farmacorresistência Bacteriana/genética , Fluoroquinolonas/farmacologia , Mutação , Animais , Campylobacter jejuni/isolamento & purificação , Galinhas , Diarreia/microbiologia , Farmacorresistência Bacteriana Múltipla/genética , Fezes/microbiologia , Humanos , Carne/microbiologia
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