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1.
Am J Med Genet A ; : e63658, 2024 May 07.
Article in English | MEDLINE | ID: mdl-38712921

ABSTRACT

We present a case study of a patient exhibiting acquired microcephaly along with global developmental delay and drug-resistant epilepsy. Brain magnetic resonance imaging revealed distinctive features, including a Z-shaped morphology of the brainstem, volumetric reduction of white matter, diffuse thinning of the corpus callosum, and partial fusion of the cerebellar hemispheres at their most cranial portion. Whole-exome sequencing uncovered a pathogenic variant in the ARF3 gene c.200A>T, p.(Asp67Val). The neurodevelopmental disorder associated with the ARF3 gene is exceptionally rare, with only two previously documented cases in the literature. This disorder is characterized by global developmental delay and brain malformations, particularly affecting the white matter, cerebellum, and brainstem. It can also manifest as acquired microcephaly and epilepsy. These phenotypic characteristics align with Golgipathies, underscoring the significance of considering this group of conditions in relevant clinical contexts. In cases where a Z-shaped morphology of the brainstem is observed, ARF3-associated disorder should be included in the list of differential diagnoses.

2.
J Vasc Bras ; 23: e20230117, 2024.
Article in English | MEDLINE | ID: mdl-38659618

ABSTRACT

Background: Anatomical variations in arteries of the upper limb, such as presence of an accessory brachial artery, are common and widely described in the literature, mainly in cadaveric studies, but it is now possible to diagnose them using vascular Doppler ultrasound. Objectives: To identify the incidence of accessory brachial artery using vascular Doppler ultrasound and compare the findings with cadaveric studies. Methods: This was a prospective study that examined 500 upper limbs of 250 volunteers assessed with vascular Doppler ultrasound using the Sonosite Titan portable ultrasound machine. Results: 15.6% of the participants in our study had the accessory brachial artery anatomical variation. Our percentage is in line with the average rates found in cadaveric studies, which ranged from 0.2% to 22%. Being aware of this variation is fundamental in procedures such as peripheral venipuncture, arteriovenous fistula creation, catheterization, forearm flaps, emergency surgeries on the limb and even correction of fractures by cast. Conclusions: The accessory brachial artery is a frequent variant in the upper limb. The percentage of individuals with an accessory brachial artery in our study was 15.6%, which agrees with data from the literature on cadaveric studies.

3.
J Vasc Bras ; 23: e20230085, 2024.
Article in English | MEDLINE | ID: mdl-38433981

ABSTRACT

The largest branch of the terminal division of the brachial artery is the ulnar artery, which arises after the cubital fossa. This artery usually has a deep path in the muscles of the anterior forearm and is responsible for vascularization of the superficial and deep musculature on the ulnar side of the forearm and hypothenar area of the hand. We report an anatomical variant diagnosed by Doppler ultrasound in which the ulnar artery had a superficial position in the forearm. Occurrence of a superficial ulnar artery is rare, but it is an important fact for clinicians, surgeons, and nursing professionals.

4.
J. vasc. bras ; 23: e20230085, 2024. graf
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1534796

ABSTRACT

Resumo O maior ramo da divisão terminal da artéria braquial é a artéria ulnar, que se origina após a fossa cubital. Essa artéria usualmente tem trajeto profundo aos músculos do antebraço anterior e é responsável pela vascularização da musculatura superficial e profunda da região ulnar do antebraço e hipotênar da mão, sendo a principal responsável pela formação do arco palmar superficial após o retináculo dos flexores. Reportamos uma variação anatômica após diagnóstico com ultrassom vascular na qual a artéria ulnar situava-se em posição superficial no antebraço. A ocorrência da artéria ulnar superficial é rara, porém de grande importância para clínicos, cirurgiões e profissionais de enfermagem.


Abstract The largest branch of the terminal division of the brachial artery is the ulnar artery, which arises after the cubital fossa. This artery usually has a deep path in the muscles of the anterior forearm and is responsible for vascularization of the superficial and deep musculature on the ulnar side of the forearm and hypothenar area of the hand. We report an anatomical variant diagnosed by Doppler ultrasound in which the ulnar artery had a superficial position in the forearm. Occurrence of a superficial ulnar artery is rare, but it is an important fact for clinicians, surgeons, and nursing professionals.

5.
J. vasc. bras ; 23: e20230117, 2024. tab, graf
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1558347

ABSTRACT

Resumo Contexto Variações anatômicas em artérias do membro superior, como a presença da artéria braquial acessória, são comuns e amplamente descritas na literatura, principalmente por estudos em cadáveres. No entanto, atualmente, é possível realizar o diagnóstico através do eco-Doppler vascular. Objetivos Identificar a incidência da artéria braquial acessória pelo eco-Doppler e comparar os achados com estudos cadavéricos. Métodos Tratou-se de um estudo prospectivo em 500 membros superiores de 250 voluntários avaliados pelo eco-Doppler com o aparelho portátil de ultrassom Sonosite Titan. Resultados Dos participantes do nosso estudo, 15,6% apresentaram a variação anatômica da artéria braquial acessória. A porcentagem está dentro da média encontrada em estudos cadavéricos, que varia de 0,2 até 22%. Ter conhecimento dessa variação é fundamental em procedimentos como punção venosa periférica, fístula arteriovenosa, cateterismo, retalhos de antebraço, cirurgias de emergência no membro superior e até mesmo correção de fraturas por gesso. Conclusões A artéria braquial acessória é uma variante frequente no membro superior. O percentual de indivíduos com a artéria braquial acessória em nosso estudo foi de 15,6% e coincide com os dados da literatura de estudos cadavéricos.


Abstract Background Anatomical variations in arteries of the upper limb, such as presence of an accessory brachial artery, are common and widely described in the literature, mainly in cadaveric studies, but it is now possible to diagnose them using vascular Doppler ultrasound. Objectives To identify the incidence of accessory brachial artery using vascular Doppler ultrasound and compare the findings with cadaveric studies. Methods This was a prospective study that examined 500 upper limbs of 250 volunteers assessed with vascular Doppler ultrasound using the Sonosite Titan portable ultrasound machine. Results 15.6% of the participants in our study had the accessory brachial artery anatomical variation. Our percentage is in line with the average rates found in cadaveric studies, which ranged from 0.2% to 22%. Being aware of this variation is fundamental in procedures such as peripheral venipuncture, arteriovenous fistula creation, catheterization, forearm flaps, emergency surgeries on the limb and even correction of fractures by cast. Conclusions The accessory brachial artery is a frequent variant in the upper limb. The percentage of individuals with an accessory brachial artery in our study was 15.6%, which agrees with data from the literature on cadaveric studies.

6.
J Vasc Bras ; 22: e20230047, 2023.
Article in English | MEDLINE | ID: mdl-38076585

ABSTRACT

The ulnar artery is the larger terminal branch of the brachial artery. It originates in the cubital fossa and is covered by the flexor muscles of the forearm. We report an anatomic variant in which the ulnar artery was in a superficial position in the forearm. Since this variant was unknown, an attempted venous puncture injured the artery, causing formation of a pseudoaneurysm.

7.
J. vasc. bras ; 22: e20230047, 2023. graf
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1528971

ABSTRACT

Resumo A artéria ulnar é o maior ramo terminal da artéria braquial, ela apresenta origem na fossa cubital e é coberta pelos músculos flexores do antebraço. Reportamos uma variação anatômica, na qual a artéria ulnar situava-se em posição superficial no antebraço. Por falta de conhecimento sobre essa variação, ocorreu a lesão após uma tentativa de punção venosa, a qual levou à formação de um pseudoaneurisma.


Abstract The ulnar artery is the larger terminal branch of the brachial artery. It originates in the cubital fossa and is covered by the flexor muscles of the forearm. We report an anatomic variant in which the ulnar artery was in a superficial position in the forearm. Since this variant was unknown, an attempted venous puncture injured the artery, causing formation of a pseudoaneurysm.

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