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1.
Orthop Rev (Pavia) ; 14(3): 38239, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36128335

RESUMO

Cubital Tunnel Syndrome (CuTS) is the compression of the ulnar nerve as it courses through the cubital tunnel near the elbow at the location colloquially referred to as the "funny bone". CuTS is the most commonly diagnosed mononeuropathy after carpal tunnel syndrome. Cubital tunnel syndrome can manifest as numbness, tingling, or pain in the ring/small fingers and dorsoulnar hand. Repetitive pressure, stretching, flexion, or trauma of the elbow joint are known causes of CuTS. Chronic ulnar nerve compression and CuTS, when left untreated, can lead to atrophy of the first dorsal interosseus muscle and affect one's quality of life to the point that they are no longer able to participate in daily activities involving fine motor function. It is estimated that up to 5.9% of the general population have had symptoms of CuTS. CuTS is underdiagnosed due to lack of seeking of treatment for symptoms. Compression or damage to the ulnar nerve is the main cause of symptoms experienced by an individual with CuTS. Repetitive elbow pressure or a history or elbow joint trauma or injury are additional known causes that can lead to CuTS. Common presentations of CuTS include paresthesia, clumsiness of the hand, hand atrophy and weakness. The earliest sign of CuTS is most commonly numbness and tingling of the ring and 5th finger. Older patients tend to present with motor symptoms of chronic onset; younger patients tend to have more acute symptoms. Pain and point tenderness at the medial elbow may also be seen. CuTS lacks universally agreed upon diagnostic and treatment algorithms. CuTS can be diagnosed by physical exam using Tinel's sign, flexion-compression tests, palpating the ulnar nerve for thickening presence of local tenderness along the nerve. Ultrasound and nerve conduction studies may be used in combination with physical exam for diagnosis. Conservative treatment for CuTS is almost always pursued before surgical treatment and includes elbow splints, braces, and night-gliding exercises. Surgical treatment may be pursued in severe CuTS refractory to conservative treatment. Surgical options include open and endoscopic in-situ decompression, medial epicondylectomy, and anterior transposition of the ulnar nerve. CuTS is a prevalent disease that, if left untreated, can significantly alter an individual's quality of life. Therefore, an accurate diagnosis and appropriate treatment is paramount in reducing further damage and preventing worsening or future symptoms.

2.
Cureus ; 13(7): e16220, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34367820

RESUMO

NTHL1 is a tumor suppressor gene involved in base excision repair. It is associated with an increased risk for colorectal and breast cancer when two variant gene copies are inherited. However, inheriting one variant NTHL1 copy is not associated with increased tumor risk. Genetic counselors report heterozygous NTHL1 mutations as benign. We present the case of a 22-year-old patient with a heterozygous NTHL1 variant who developed an arm schwannoma, spinal schwannoma, and hepatic hemangioma. The patient also reported feeling multiple other bumps on his body but did not seek medical care due to a lack of symptoms. This case suggests that heterozygous NTHL1 variants may be implicated in tumor development.

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