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1.
Skinmed ; 21(4): 280-281, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37771023

RESUMEN

A 61-year-old woman presented with a 3-year history of painless soft-tissue mass on the right sole. The patient reported gradual growth, with a rapid increase in size over the past few months, leading to difficulty in walking. She had no history of past trauma. Examination revealed a 4-cm ovoid mass located over the ball of the foot. It was firm in consistency, with well-defined margins, a smooth surface, and an overlying normal skin (Figure 1). An ultrasound image revealed an eccentric, hypoechoic, nonvascular subcutaneous lobular mass. A magnetic resonance imaging (MRI) of the foot revealed a well-defined mass arising from the flexor tendon sheath of the right foot. The lesion was heterogeneously hyperin-tense on T1- and T2-weighted images with an avid contrast enhancement. All of the surrounding soft tissues indicated normal signal intensity patterns. There was no associated bony destruction. Histopathologic examination after complete excision of the mass established a well-circumscribed lesion composed of osteoclast-like giant cells and mononuclear cells in a hyalinized stroma, consistent with a giant cell tumor of the tendon sheath (GCT-TS) (Figure 2). There was no recurrence during a 6-month follow-up period (Figure 3).


Asunto(s)
Tumor de Células Gigantes de las Vainas Tendinosas , Tumores de Células Gigantes , Femenino , Humanos , Persona de Mediana Edad , Tendones/diagnóstico por imagen , Tendones/patología , Tumores de Células Gigantes/diagnóstico , Tumores de Células Gigantes/cirugía , Tumores de Células Gigantes/patología , Tumor de Células Gigantes de las Vainas Tendinosas/diagnóstico , Tumor de Células Gigantes de las Vainas Tendinosas/cirugía , Tumor de Células Gigantes de las Vainas Tendinosas/patología , Imagen por Resonancia Magnética , Pie/patología
2.
Growth Horm IGF Res ; 71: 101550, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37531800

RESUMEN

Type 1 Insulin-like Growth Factor Receptor(IGF1R) plays a fundamental role in normal growth and development. Its disruption is usually characterized by severe intrauterine and postnatal growth retardation, microcephaly and neurodevelopmental delay.The efficacy of recombinant human growth hormone treatment remains a challenge for children with IGF1 resistance and pathogenic mutations of IGF1R, with limited data in patients carrying the most severe form of IGF1R defect, the ring chromosome 15. SUBJECT AND METHOD: We tested a high dose of rhGH in a new patient with ring chromosome 15, as confirmed by karyotype and CGH array. We performed a systematic review, and all published r(15) syndrome cases treated by growth hormone(GH) up to April 2023 were searched, and their response to GH therapy was recorded and summarized. RESULTS: Twelve patients with ring chromosome 15 received GH therapy according to a literature review. We expand the spectrum by the 13th case treated by GH, and we report an impressive improvement in intellectual performance and progressive catch-up growth after 5 and 20 months of follow-up. By introducing our new case in the analysis, the sex ratio was 3:10, and GH therapy was started at the age of 5.5 (3/9.4) (years) for an age of diagnosis of 4.75 (1.3/9.5) (years). The height before GH therapy was -5.1(-5.9/-4.1) SDS. The median duration of treatment was 1.7(0.9/2) (years), with a median height gain of 1(0.3/1.8) SDS and an improvement in growth velocity of 4.1(2.8/5.3) (cm/year). CONCLUSION: GH seems to be effective for r(15) syndrome patients with short stature.


Asunto(s)
Enanismo , Hormona de Crecimiento Humana , Cromosomas en Anillo , Niño , Humanos , Preescolar , Hormona de Crecimiento Humana/uso terapéutico , Hormona del Crecimiento , Trastornos del Crecimiento/tratamiento farmacológico , Trastornos del Crecimiento/genética , Enanismo/tratamiento farmacológico , Síndrome
3.
Ann Med Surg (Lond) ; 85(4): 1194-1196, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37113951

RESUMEN

Traumatic abdominal wall hernia (TAWH) also known as blunt abdominal TAWH is uncommon. The clinical diagnosis is difficult. The authors present a case report of posthigh-energy abdominal blunt trauma causing a TAWH. Case presentation: A 36-year-women, with unremarkable past medical history, was presented to the Emergency Department after a stuck in high-speed two automobiles. She was hemodynamic, respiratory, and neurologically stable. The BMI was 36 kg/m². The abdomen was not distended with an ecchymotic lesion on the right flank. The thoracic abdominal and pelvic computed tomography (CT) scan revealed a rupture in the lateral abdominal wall muscles with a TAWH in the location of the skin ecchymoses. There was no visceral lesion or intraperitoneal fluid. A conservative treatment was indicated. The follow-up was uneventful, with hematoma resorption and no cellulitis or abscess. The patient was discharged after 1 week. An abdominal repair will be planned using a mesh. Clinical discussion: TAWH is a rare entity. The best imaging modality for diagnosis is the CT scan allowing classification of the hernia and a screen for other injuries. The presence of an isolated TAWH must lower the threshold to closely monitor or to operatively explore, given the high rate of false-negative findings at imaging features. Conclusion: TAWH should be suspected behind any blunt abdominal trauma with high energy. CT scan and ultrasound were helpful for diagnosis and the only curative treatment is surgery to avoid complications.

4.
Clin Case Rep ; 10(5): e05833, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35592047

RESUMEN

Harlequin syndrome corresponds to unilateral dysfunction of the sympathetic system, characterized by flush and unilateral hyperhidrosis associated with hypo or anhidrosis and paleness of the opposite side. It is, usually, idiopathic. Rarely, it may be associated with compressive organic processes, iatrogenic causes, and general diseases. It is a real therapeutic challenge.

5.
Ann Med Surg (Lond) ; 68: 102638, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34381610

RESUMEN

INTRODUCTION AND IMPORTANCE: Histiocytic sarcoma (HS) is a rare malignant neoplasm showing morphologic and immunohistochemical features of histiocytes. It is characterized typically by extranodal presentation and a poor clinical course, particularly in cases with disseminated disease. CASE PRESENTATION: This report documents a case of bifocal and aggressive HS in small bowel and lung revealed by acute peritonitis in a 63-year-old man. CLINICAL DISCUSSION: Despite its rarity, we believe that the correct diagnosis of HS is crucial for clinical treatment and prognostic prediction. CONCLUSION: The collection of additional cases of HS are important to obtain further progress in prognosis and guide treatment decisions.

7.
Respir Med Case Rep ; 31: 101287, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33251105

RESUMEN

Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal tumor usually seen within the first and second decade. They are extremely rare in adults, constituting less than 1% of adult lung tumors. It's usually benign, but it had a tendency for local recurrence. We report a case of asymptomatic inflammatory myofibroblastic tumor of lung in a 46-year-old non-smoker woman.

8.
Eur J Case Rep Intern Med ; 7(11): 001804, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33194853

RESUMEN

Haemoptysis is a frequently occurring but sometimes life-threatening condition. Congenital cardiovascular abnormalities are rare causes of haemoptysis. We report a case of a 33-year-old man without any past medical history complaining of haemoptysis with no other associated clinical manifestations. A contrast-enhanced chest computed tomography scan revealed aortic coarctation with dilation of the internal mammary, intercostal and bronchial arteries. He underwent stent placement after balloon angioplasty with favourable outcomes. LEARNING POINTS: Adult patients with congenital cardiovascular abnormalities such as aortic coarctation may rarely, due to the high pressure and dilation in the bronchial arteries, present with recurrent haemoptysis as the sole clinical sign.A multidetector computed tomography scan contributes significantly to the aetiological diagnosis of haemoptysis in cases of congenital cardiovascular abnormalities.Interventional procedures such as stenting are currently the preferred approach for the treatment of aortic coarctation in adults, with good outcomes.

9.
Pan Afr Med J ; 36: 257, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33014253

RESUMEN

Since asymptomatic infections as "covert transmitter", and some patients can progress rapidly in the short term, it is essential to pay attention to the diagnosis and surveillance of asymptomatic patients with SARS-COV2 infection. CT scan has great value in screening and detecting patients with COVID-19 pneumonia, especially in the highly suspected or probable asymptomatic cases with negative RT-PCR for SARS-COV2. This study aimed to detect incidentally COVID-19 pneumonia on medical imaging for patients consulting for other reasons.


Asunto(s)
Betacoronavirus , Técnicas de Laboratorio Clínico/métodos , Infecciones por Coronavirus/diagnóstico por imagen , Pulmón/diagnóstico por imagen , Pandemias , Neumonía Viral/diagnóstico por imagen , Dolor Abdominal/complicaciones , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Enfermedades Asintomáticas , Lesiones Encefálicas/complicaciones , COVID-19 , Prueba de COVID-19 , Dolor en el Pecho/complicaciones , Niño , Preescolar , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/diagnóstico , Femenino , Humanos , Hallazgos Incidentales , Linfadenopatía/diagnóstico por imagen , Linfadenopatía/etiología , Masculino , Persona de Mediana Edad , Derrame Pleural/diagnóstico por imagen , Derrame Pleural/etiología , Neumonía Viral/complicaciones , Estudios Prospectivos , SARS-CoV-2 , Tomografía Computarizada por Rayos X/métodos , Túnez/epidemiología , Adulto Joven
10.
Pan Afr Med J ; 37: 11, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33062114

RESUMEN

Primary pulmonary lymphoma is a rare entity. Furthermore, simultaneous bilateral spontaneous pneumothorax (SBSP) is a very rare condition which is often related to therapeutic complications. We present, to the best of our knowledge, the first case of primary pulmonary mucosa associated lymphoid tissue (MALT) lymphoma revealed by SBSP. A 50-year-old female was diagnosed with organizing pneumonia. One month later, she presented with sudden chest pain and shortness of breath due to SBSP. Bilateral chest tubes were inserted. A scan- guided right lung biopsy led to the diagnosis of primary pulmonary MALT lymphoma. The patient was treated with R-CHOP chemotherapy. The association between lymphoma and pneumothorax is extremely rare, often related to therapeutic toxicity. We report the case of SBSP as the first manifestation of primary pulmonary MALT lymphoma.


Asunto(s)
Neoplasias Pulmonares/diagnóstico , Linfoma de Células B de la Zona Marginal/diagnóstico , Neumotórax/etiología , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Dolor en el Pecho/etiología , Tubos Torácicos , Ciclofosfamida/administración & dosificación , Doxorrubicina/administración & dosificación , Disnea/etiología , Femenino , Humanos , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/terapia , Linfoma de Células B de la Zona Marginal/patología , Linfoma de Células B de la Zona Marginal/terapia , Persona de Mediana Edad , Prednisona/administración & dosificación , Rituximab/administración & dosificación , Vincristina/administración & dosificación
11.
Respir Med Case Rep ; 31: 101238, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33088707

RESUMEN

Mounier-Kuhn syndrome or tracheobronchomegaly is a rare disease characterized by marked dilation of the trachea and proximal bronchi with recurrent lower tract respiratory infections. Computed tomography and bronchoscopy are the key tools to accomplish the diagnosis. This is a condition with a clinical polymorphism, symptoms vary from minor with preserved respiratory function, to very severe with life threatening exacerbations leading to respiratory failure and premature death. The treatment is mainly symptomatic, stenting or surgery are reserved to extreme cases.Herein, we report two cases of the same condition with different clinical signs and diverse outcome.

12.
Respirol Case Rep ; 8(8): e00659, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32995010

RESUMEN

Mesothelial cysts are uncommon benign cysts of the mediastinum. Rarely, they are discovered after complications or unusual presentations. This report describes a rare case of pleural effusion revealing a ruptured mediastinal mesothelial cyst in a 28-year-old man. The diagnosis of this complicated mesothelial cyst relied on intraoperative and anatomopathological findings. He underwent videothoracoscopy with resection of the cyst. Outcomes were favourable.

13.
Pan Afr Med J ; 36: 120, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32821331

RESUMEN

Only a few cases of temporal choroidal fissure cyst are reported. We describe a new case of an 8 years old girl who manifested complex partial seizure. The diagnosis was made by magnetic resonance imagining (MRI). The signal intensity of the cyst was identical to the cerebrospinal fluid (CSF), and the underlying hippocampus was compressed by the cyst. The seizures were medically controlled. The value of MRI in the diagnosis and medical treatment will be discussed.


Asunto(s)
Plexo Coroideo/diagnóstico por imagen , Quistes/complicaciones , Epilepsia del Lóbulo Temporal/etiología , Niño , Plexo Coroideo/patología , Quistes/diagnóstico por imagen , Epilepsia del Lóbulo Temporal/diagnóstico , Femenino , Hipocampo/diagnóstico por imagen , Hipocampo/patología , Humanos , Imagen por Resonancia Magnética , Lóbulo Temporal/diagnóstico por imagen , Lóbulo Temporal/patología
14.
Respir Med Case Rep ; 31: 101151, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32714824

RESUMEN

Chylothorax is a rare pathology with potentially severe consequences. Transudative chylothorax remain an extremely rare entity. Cirrhosis is often an underappreciated cause. We report a case of transudative chylothorax in 62-year-old woman with cirrhosis due to hepatitis C.

15.
Respir Med Case Rep ; 30: 101065, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32489846

RESUMEN

Thyroid metastasis revealing a primary lung cancer is an extremely rare condition. Only few cases have been reported in the literature. A multidisciplinary approach is essential for the diagnosis. The prognosis is generally poor. We report a case of a 50-year-old man presented with cervical nodules corresponding to a thyroid nodule and lymph nodes. The ultrasonography-guided fine-needle aspiration cytology of the thyroid nodule and a cervical lymphadenopathy concluded to a poorly differentiated adenocarcinoma. Cervical lymphadenopathy biopsy with immunohistochemistry and additional imaging explorations contributed to the diagnosis of a lung adenocarcinoma stage IVB. He died few days after the diagnosis.

16.
Respir Med Case Rep ; 29: 100986, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31890561

RESUMEN

Cavernous hemangioma (CH) of the thymus is an extremely rare congenital venous malformation. Related symptoms are non-specific and patients are often asymptomatic. The diagnosis is difficult to make either by non-invasive or mini-invasive procedures. Surgical resection is usually required for diagnosis and treatment. We report a case of a 46-year-old men with an incidental finding of an anterior mediastinal tissue mass on chest computed tomography scan. A complete surgical resection of the mass was performed. Histopathological examination concluded to a thymic CH.

17.
Artículo en Inglés | MEDLINE | ID: mdl-29692900

RESUMEN

Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism in combination with a defect in sense of smell, due to abnormal migration of gonadotropin-releasing hormone-producing neurons. We report a case of a 17-year-old Tunisian male who presented with eunuchoid body proportions, absence of facial, axillary and pubic hair, micropenis and surgically corrected cryptorchidism. Associated findings included anosmia. Karyotype was 46XY and hormonal measurement hypogonadotropic hypogonadism. MRI of the brain showed bilateral agenesis of the olfactory bulbs and 3.5 mm pituitary microadenoma. Hormonal assays showed no evidence of pituitary hypersecretion. LEARNING POINTS: The main clinical characteristics of KS include hypogonadotropic hypogonadism and anosmia or hyposmia.MRI, as a non-irradiating technique, should be the first radiological step for investigating the pituitary gland as well as abnormalities of the ethmoid, olfactory bulbs and tracts in KS.KS may include anterior pituitary hypoplasia or an empty sella syndrome. The originality of our case is that a microadenoma also may be encountered in KS. Hormonal assessment indicated the microadenoma was non-functioning. This emphasizes the importance of visualizing the pituitary region in KS patients to assess for hypoplastic pituitary malformations or adenomas.

18.
Res Microbiol ; 158(2): 128-37, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17258434

RESUMEN

A PCR approach was developed to assess the occurrence and diversity of arsenite transporters in arsenic-resistant bacteria. For this purpose, three sets of degenerate primers were designed for the specific amplification of approximately 750bp fragments from arsB and two subsets of ACR3 (designated ACR3(1) and ACR3(2)) arsenite carrier gene families. These primers were used to screen a collection of 41 arsenic-resistant strains isolated from two soil samples with contrasting amounts of arsenic. PCR results showed that 70.7% of the isolates contained a gene related to arsB or ACR3, with three of them carrying both arsB and ACR3-like genes. Phylogenetic analysis of the protein sequences deduced from the amplicons indicated a prevalence of arsB in Firmicutes and Gammaproteobacteria, while ACR3(1) and ACR3(2) were mostly present in Actinobacteria and Alphaproteobacteria, respectively. In addition to validating the use of degenerate primers for the identification of arsenite transporter genes in a taxonomically wide range of bacteria, the study describes a novel collection of strains displaying interesting features of resistance to arsenate, arsenite and antimonite, and the ability to oxidize arsenite.


Asunto(s)
Arsénico/farmacología , Proteínas Bacterianas/genética , Bacterias Gramnegativas/genética , Bacterias Grampositivas/genética , Proteínas de Transporte de Membrana/genética , Reacción en Cadena de la Polimerasa/métodos , Microbiología del Suelo , Cartilla de ADN , Farmacorresistencia Bacteriana , Genes Bacterianos , Variación Genética , Bacterias Gramnegativas/efectos de los fármacos , Bacterias Grampositivas/efectos de los fármacos
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