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1.
Acta Endocrinol (Buchar) ; 18(1): 93-96, 2022.
Article in English | MEDLINE | ID: mdl-35975255

ABSTRACT

Background: Congenital hypothyroidism (CH) is the most common congenital endocrine disease with reported high prevalence of associated congenital anomalies which are also present in case of congenital cytomegalovirus (cCMV) infection. Subjects and Methods: We present two cases of newborns cCMV infection with CH. In the first case thyroid agenesis was diagnosed and cCMV infection was also confirmed for the hypotonia persistence after L-thyroxine treatment. In the second case thyroid dyshormonogenesis was diagnosed with maternal CMV serological conversion in the first trimester of gestation and confirmed post-neonatal infection. Incidence of CH has increased in the Italian region of Piedmont in the years 2014-2019 up to 1:1090 with higher incidence of cCMV infection in the babies with diagnosis of CH (12/1000 vs. 5-7/1000 in the newborns without CH). To our knowledge, no data on the association of cCMV infection with a CH condition have been reported in the literature to date. Conclusions: The described cases could be useful to alert caregivers in case of maternal seroconversion to avoid maternal and foetal hypothyroidism. On the other hand, when the clinical condition of newborns with CH diagnosis do not improve after l-thyroxine treatment, it might be important to consider cCMV infection.

2.
Rev Sci Tech ; 35(3): 787-793, 2016 Dec.
Article in English | MEDLINE | ID: mdl-28332650

ABSTRACT

Contagious bovine pleuropneumonia (CBPP) was recognised on Bako Agricultural Research Farm, in the Oromia Region of Ethiopia, for the first time on 5 May 2011. The outbreak was investigated by combining recognition of clinical signs, post-mortem examination, mycoplasma isolation and serological testing using competitive enzymelinked immunosorbent assay (c-ELISA). The clinical cases were monitored for eight months; sick animals were treated with a range of antibiotics and isolated if necessary. The outbreak of CBPP was confirmed both bacteriologically and serologically and had spread to almost the entire herd (96.7%) within the eight-month observation period. Of the animals that recovered after antibiotic treatment, 12.3% fell sick again, showed typical signs of CBPP and were considered to be carriers. The role of treatment in the prevention of the spread of CBPP was minimal. Newly purchased animals that were not tested and quarantined before being introduced onto the farm were suspected to have been the most probable source of infection.


La péripneumonie contagieuse bovine (PPCB) a été détectée pour la première fois dans la Ferme de recherches agricoles de Bako, dans l'Oromia (Éthiopie) le 5 mai 2011. Des investigations ont été conduites sur le foyer, au cours desquelles ont été réalisés des examens cliniques, des autopsies, des tentatives d'isolement de mycoplasmes et des tests sérologiques recourant à l'épreuve immuno-enzymatique de compétition (c-ELISA). Les cas cliniques ont été suivis pendant huit mois. Les animaux atteints ont été traités par antibiothérapie et mis à l'isolement si nécessaire. Le diagnostic de PPCB a été confirmé par les résultats tant bactériologiques que sérologiques ; le foyer s'est propagé dans tout le troupeau (96,7 %) au cours des huit mois de la période d'observation. Parmi les animaux ayant réagi au traitement antibiotique, 12,3 % ont eu une rechute accompagnée de signes cliniques caractéristiques de PPCB et ont donc été considérés comme porteurs. Le traitement n'a pas permis de prévenir significativement la propagation de la PPCB. Des animaux achetés et introduits dans la ferme peu de temps avant l'apparition du premier cas, sans avoir été préalablement testés ni soumis à une quarantaine, constituent la source la plus probable de l'infection.


El 5 de mayo de 2001 se detectó por primera vez perineumonía contagiosa bovina en la Granja de Investigación Agrícola de Bako, sita en la región etíope de Oromia. Para estudiar el brote se combinó la observación de signos clínicos con la realización de necropsias, el aislamiento de micoplasmas y pruebas serológicas con un ensayo inmunoenzimático de competición (ELISAc). Durante ocho meses se hizo un seguimiento de los casos clínicos, y los animales enfermos fueron tratados con diversos antibióticos y aislados en caso necesario. Tanto bacteriológica como serológicamente se confirmó la presencia de un brote de perineumonía contagiosa bovina, que en el curso de los ocho meses de observación se había propagado a la casi totalidad del rebaño (96,7%). De los animales que se recobraron tras recibir terapia antibiótica, un 12,3% recayeron con signos típicos de la enfermedad y fueron considerados portadores. El tratamiento tuvo un efecto mínimo para prevenir la diseminación del brote. Según se piensa, lo más probable es que la infección tuviera su origen en un conjunto de animales recién adquiridos que a su llegada a la granja no fueron sometidos ni a pruebas de detección ni a cuarentena.


Subject(s)
Anti-Bacterial Agents/administration & dosage , Cattle Diseases/epidemiology , Disease Outbreaks/veterinary , Mycoplasma mycoides/immunology , Pleuropneumonia, Contagious/epidemiology , Animals , Antibodies, Bacterial/blood , Cattle , Cattle Diseases/drug therapy , Cattle Diseases/microbiology , Ethiopia/epidemiology , Female , Lung/pathology , Male , Mycoplasma/growth & development , Mycoplasma/isolation & purification , Oxytetracycline/administration & dosage , Penicillins/administration & dosage , Pleuropneumonia, Contagious/drug therapy , Streptomycin/administration & dosage , Tylosin/administration & dosage
3.
Osteoporos Int ; 23(7): 1987-98, 2012 Jul.
Article in English | MEDLINE | ID: mdl-21947033

ABSTRACT

SUMMARY: We measured bone properties by phalangeal quantitative ultrasound in 1,719 pediatric patients with bone disorders, classifying them according to fracture status. Quantitative ultrasound discriminated fractured and nonfractured pediatric patients and enabled us to stratify fractured patients into classes according to the severity of the causative trauma (spontaneous, minimal trauma, appropriate trauma fractures). INTRODUCTION: The correlation between quantitative bone measurements and fractures is poorly established in pediatric patients with bone disorders. We correlated phalangeal quantitative ultrasound (QUS) and fracture history in children and adolescents with bone disorders and evaluated the ability of QUS to recognize fractured patients. METHODS: Amplitude-dependent speed of sound (AD-SoS) and bone transmission time (BTT) were measured in 1,719 pediatric patients with bone disorders and related to fracture history. The patients were classified as (1) spontaneously (77), (2) minimal trauma (101), or (3) appropriate trauma fractured (206), and (4) nonfractured (1,335). The likelihood of fracture according to QUS was calculated as odds ratio per SD decrease (OR/SD), and the effectiveness in discriminating fractured patients was evaluated by receiver operating characteristic (ROC) analysis. The influence of age, sex, puberty, height, and BMI was explored by respective adjustments and multiple logistic regression. RESULTS: Fractured patients showed significantly reduced AD-SoS and BTT standard deviation score (-0.32 ± 1.54 and -0.78 ± 1.49) compared to nonfractured subjects (0.43 ± 1.63 and -0.11 ± 1.34). QUS measurements paralleled the causative trauma severity, ranging from the lowest values in spontaneously fractured patients to normal values in appropriate trauma fractured subjects. The OR/SD were increasingly higher in appropriate trauma fractured, minimal trauma fractured, and spontaneously fractured patients. At ROC analysis, both parameters proved to have significant discrimination power in recognizing spontaneously and minimal trauma-fractured patients. CONCLUSIONS: QUS identifies fractured pediatric patients with bone disorders, reflecting the severity of the causative trauma with a high discrimination power for fragility fractures.


Subject(s)
Bone Diseases/diagnostic imaging , Finger Phalanges/diagnostic imaging , Fractures, Bone/diagnostic imaging , Adolescent , Anthropometry/methods , Bone Density/physiology , Bone Diseases/complications , Bone Diseases/physiopathology , Child , Child, Preschool , Female , Finger Phalanges/physiopathology , Fractures, Bone/etiology , Fractures, Bone/physiopathology , Fractures, Spontaneous/diagnostic imaging , Fractures, Spontaneous/etiology , Fractures, Spontaneous/physiopathology , Humans , Male , Ultrasonography , Young Adult
4.
J Endocrinol Invest ; 34(9): 660-4, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21169730

ABSTRACT

Non-classical congenital adrenal hyperplasia (NCAH) is a morbid condition sustained by the reduced function of one of the enzymes involved in the adrenal steroid biosynthesis pathway, mainly the 21-hydroxylase. Different degrees of enzyme activity impairment determine different clinical pictures, with childhood or post-pubertal onset. The aim of this study was to evaluate the relationship between genotype, phenotype, and adrenal hormonal levels in a group of 66 patients affected by NCAH attending outpatient pediatric or endocrinological Clinics. Our findings show that age at pubarche/menarche was significantly younger, height SD score) and Δ bone age-chronological age were significantly higher in patients with a more severe enzyme activity impairment, while cutaneous androgenization and menstrual irregularities in post-pubertal girls were not related to the grading of genotype.


Subject(s)
Adrenal Hyperplasia, Congenital/genetics , Adrenal Hyperplasia, Congenital/physiopathology , Genotype , Phenotype , 17-alpha-Hydroxyprogesterone/blood , Adolescent , Adrenocorticotropic Hormone/blood , Adult , Age Determination by Skeleton , Child , Female , Genetic Testing , Humans , Male , Mutation , Puberty , Steroid 21-Hydroxylase/genetics
5.
Eur J Pediatr Surg ; 19(6): 388-91, 2009 Dec.
Article in English | MEDLINE | ID: mdl-19826983

ABSTRACT

INTRODUCTION: Recent data has indicated the usefulness of performing orchiopexy in the first years of life. In this study, we evaluated testicular function in young men operated on for cryptorchidism in the first year of life. To our knowledge, this is the first report on the effects of such an early treatment. MATERIALS AND METHODS: Testicular function was assessed in a group of young men operated for cryptorchidism during the first year of life (Group A, n=13) and during the second year of life (Group B, n=16). RESULTS: Total sperm counts were clearly higher in Group A (52.3+/-14.3 million/ml vs. 30.4+/-23.5 million/ml, p=0.005) as was sperm motility (36.2+/-8.7 vs. 23.1+/-15.7%, p=0.009). A clear inverse relationship was found between age at orchiopexy and total sperm count (r=-0.394, p=0.034) and sperm motility (r=-0.382, p=0.041). The relationship between volume of testes, position at surgery, uni/bilaterality of cryptorchidism, evidence of Ad spermatogonia at biopsy performed during surgery and treatment with LHRH and hCG performed before surgery and fertility was not significant. The latter findings may be partially explained by the low number of patients participating in the study and need further investigation. CONCLUSIONS: We obtained, for the first time, results showing the benefit of treating cryptorchidism during the first year of life rather than in the second year or even later.


Subject(s)
Cryptorchidism/surgery , Infertility, Male/prevention & control , Orchiopexy , Sperm Count , Age Factors , Biopsy , Child, Preschool , Humans , Infant , Male , Risk Assessment , Risk Factors , Sperm Motility , Spermatogonia
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