Crossed aphasia (CA) is defined as language impairment following right-hemispheric brain lesion in right-handed person. Exact mechanism responsible for CA is ambiguous, and recently several brain lesions have been proposed to be associated with aphasia using lesion mapping method. Corpus callosum has dual bloody supply which makes it less vulnerable to infarction. Speech difficulties such as stuttering after corpus callosum infarction have been reported in the past, but aphasia is rare, which makes CA more unique. We report an extraordinary case of CA after right corpus callosum infarction. A 74-year-old female patient with a previous history of right thalamus infarction with no neurologic sequela has developed language disturbance without apraxia 1 month ago and a diffusion-weighted magnetic resonance imaging showed newly developed infarction at right corpus callosum. The aphasia quotient of the Korean version of the Western Aphasia Battery was 2.5, implying severe global aphasia. Positron emission tomography-computed tomography showed decreased metabolism in right corpus callosum and left frontal and temporal cortex, suggesting that interhemispheric diaschisis may be responsible for the CA. This is an extraordinary case report of an isolated manifestation of CA secondary to right corpus callosum infarction.
Aged ; Aphasia ; Apraxias ; Brain ; Brain Infarction ; Corpus Callosum ; Electrons ; Female ; Humans ; Infarction ; Magnetic Resonance Imaging ; Metabolism ; Methods ; Stuttering ; Temporal Lobe ; Thalamus

Priapism is defined as a persistent and painful erection lasting longer than four hours without sexual stimulation. Based on episode history and pathophysiology, priapism is classified into three subtypes: ischemic (low-flow), non-ischemic (high-flow), and stuttering priapism. Ischemic priapism is characterized by a persistent, painful erection with remarkable rigidity of the corpora cavernosa caused by a disorder of venous blood outflow from this tissue mass, and is similar to penile compartment syndrome. Stuttering priapism is characterized by a self-limited, recurrent, and intermittent erection, frequently occurring in patients with sickle cell disease. Non-ischemic priapism is characterized by a painless, persistent nonsexual erection that is not fully rigid and is caused by excess arterial blood flow into the corpora cavernosa. Because ischemic and non-ischemic priapism differ based on emergency status and treatment options, appropriate discrimination of each type of priapism is required to initiate adequate clinical management. The goal of management of priapism is to achieve detumescence of the persistent penile erection and to preserve erectile function after resolution of the priapism. To achieve successful management, urologists should address this emergency clinical condition. In the present article, we review the diagnosis and clinical management of the three types of priapism.
Anemia, Sickle Cell ; Compartment Syndromes ; Diagnosis ; Discrimination (Psychology) ; Emergencies ; Humans ; Male ; Penile Erection ; Priapism* ; Stuttering

Speech and language are uniquely human-specific traits, which contributed to humans becoming the predominant species on earth. Disruptions in the human speech and language function may result in diverse disorders. These include stuttering, aphasia, articulation disorder, spasmodic dysphonia, verbal dyspraxia, dyslexia and specific language impairment. Among these disorders, stuttering is the most common speech disorder characterized by disruptions in the normal flow of speech. Twin, adoption, and family studies have suggested that genetic factors are involved in susceptibility to stuttering. For several decades, multiple genetic studies including linkage analysis were performed to connect causative gene to stuttering, and several genetic studies have revealed the association of specific gene mutation with stuttering. One notable genetic discovery came from the genetic studies in the consanguineous Pakistani families. These studies suggested that mutations in the lysosomal enzyme-targeting pathway genes (GNPTAB, GNPTG and NAPGA) are associated with non-syndromic persistent stuttering. Although these studies have revealed some clues in understanding the genetic causes of stuttering, only a small fraction of patients are affected by these genes. In this study, we summarize recent advances and future challenges in an effort to understand genetic causes underlying stuttering.
Aphasia ; Apraxias ; Articulation Disorders ; Dyslexia ; Dysphonia ; Genetic Linkage ; Humans ; Lysosomes ; Stuttering*

Speech and language are uniquely human-specific traits that have contributed to humans becoming the predominant species on earth from an evolutionary perspective. Disruptions in human speech and language function may result in diverse disorders, including stuttering, aphasia, articulation disorder, spasmodic dysphonia, verbal dyspraxia, dyslexia, and specific language impairment (SLI). These disorders often cluster within a family, and this clustering strongly supports the hypothesis that genes are involved in human speech and language functions. For several decades, multiple genetic studies, including linkage analysis and genomewide association studies, were performed in an effort to link a causative gene to each of these disorders, and several genetic studies revealed associations between mutations in specific genes and disorders such as stuttering, verbal dyspraxia, and SLI. One notable genetic discovery came from studies on stuttering in consanguineous Pakistani families; these studies suggested that mutations in lysosomal enzyme-targeting pathway genes (GNPTAB, GNPTG, and NAPGA) are associated with non-syndromic persistent stuttering. Another successful study identified FOXP2 in a Caucasian family affected by verbal dyspraxia. Furthermore, an abnormal ultrasonic vocalization pattern (USV) was observed in knock-in (KI) and humanized mouse models carrying mutations in the FOXP2 gene. Although studies have increased our understanding of the genetic causes of speech and language disorders, these genes can only explain a small fraction of all disorders in patients. In this paper, we summarize recent advances and future challenges in an effort to reveal the genetic causes of speech and language disorders in animal models.
Animals ; Aphasia ; Apraxias ; Articulation Disorders ; Dyslexia ; Dysphonia ; Humans ; Language Disorders* ; Mice ; Models, Animal ; Stuttering ; Ultrasonics

Uncovering enzyme (UCE), encoded by the human NAGPA, is a trans-Golgi enzyme that adds the mannose-6-phosphate recognition tag on lysosomal enzymes destined for the lysosome. Mutations in NAGPA are known to cause stuttering, a common speech disorder with unknown etiology. The human NAGPA gene is transcribed into two different forms, probably due to alternative splicing. One of them, known as a brain isoform, is lacking exon 8 (102-bp). We performed quantitative real-time PCR for the NAGPA brain and non-brain isoforms in a cDNA panel originating from 16 human tissues and 24 sub-brain regions. According to our findings, the relative quantity of the NAGPA brain isoform in the brain was 4.7 times more than that in the control cDNA, a pooled mixture of equal amounts of cDNAs from the 16 different tissues. Further analysis using the cDNA panel originating from 24 different sub-brain regions revealed that the cerebral cortex contained the largest amount of NAGPA brain isoform. Relative quantity in the cerebral cortex was 8.6 times more than that in the control cDNA (P=0.00004). The lowest quantity of this isoform was detected in cDNA from the pituitary gland. In conclusion, findings of the current study suggest that the cerebral cortex, expressing the highest quantity of the NAGPA brain isoform, might be the region associated with speech function.
Alternative Splicing ; Brain ; Cerebral Cortex ; DNA, Complementary* ; Exons ; Humans* ; Lysosomes ; Mannosephosphates ; Phosphoric Diester Hydrolases ; Pituitary Gland ; Protein Isoforms* ; Real-Time Polymerase Chain Reaction ; Stuttering

We recently encountered a case of stuttering priapism in a 41-year-old patient with neurosyphilis. Priapism very rarely has a neurogenic cause, and to our knowledge, priapism caused by neurosyphilis has not been reported previously in the literature. Our aim was to report this case and systematically review the related literature.
Humans ; Neurosyphilis ; Priapism ; Stuttering

Priapism is a persistent penile erection that continues for hours beyond, or is unrelated to, sexual stimulation. Priapism requires a prompt evaluation and usually requires an emergency management. There are two types of priapism: 1) ischemic (veno-occlusive or low-flow), which is found in 95% of cases, and 2) nonischemic (arterial or high-flow). Stuttering (intermittent or recurrent) priapism is a recurrent form of ischemic priapism. To initiate appropriate management, the physician must decide whether the priapism is ischemic or nonischemic. In the management of an ischemic priapism, resolution should be achieved as promptly as possible. Initial treatment is therapeutic aspiration with or without irrigation of the corpora. If this fails, intracavernous injection of sympathomimetic agents is the next step. Surgical shunts should be performed in cases involving failure of nonsurgical treatment. The first management of a nonischemic priapism should be observation. Selective arterial embolization is recommended for the management of nonischemic priapism in cases that request treatment. The goal of management for stuttering priapism is prevention of future episodes. This article provides a review of recent clinical developments in the medical and surgical management of priapism and an investigation of scientific research activity in this rapidly developing field of study.
Emergencies ; Erectile Dysfunction ; Male ; Penile Erection ; Priapism* ; Stuttering ; Sympathomimetics

PURPOSE: The purpose of this study was to evaluate the clinical characteristics of developmental stuttering. METHODS: We retrospectively reviewed 28 children diagnosed with developmental stuttering from January 2001 to December 2010 who had been admitted to the Uijeongbu St. Mary's Hospital. RESULTS: We observed a strong male predominance. The M:F ratio was 13:1 in this study. And the onset age converged on 2-5 years (71.4%). Seven patients (25%) had a family history of language disorders. Among them, 5 cases (17.8%) was about to developmental stuttering. As for associated disorders, 5 patients (17.8%) had another language disorder as articulation disorder or developmental language delay; respectively 4 patients (14.2%) and 1 patient (3.6%). Three patients (10.7%) had psychologic disorder as ADHD or anxiety disorder; respectively 2 patients (7.1%) and 1 patient (3.6%). In addition, 2 patients (7.1%) had ankyloglossia including 1 case accompanying with articulation disorder. Another 2 patients (7.1%) had adenoid-hypertrophy also including 1 case accompanying with articulation disorder. The proportion of moderate-to-severe and severe cases was 63.6%. And we observed remarkable improvement of stuttering in 92.9% (13/14) patients during repetitive speech or text reading. CONCLUSION: Several distinctive characteristics of developmental stuttering were observed in this study. The value of this study is that it's the clinical report on developmental stuttering by pediatrician and we expect this study will contribute to the basis of forward investigation.
Age of Onset ; Anxiety ; Articulation Disorders ; Child ; Clinical Medicine ; Humans ; Language Disorders ; Male ; Mouth Abnormalities ; Retrospective Studies ; Stuttering

OBJECTIVETo explore the correlations of dopamine transporter gene (DAT) and dopamine D(2) receptor gene (DRD2) to stuttering.

METHODSTo examine the correlations of the 5 single nucleotide polymorphisms (SNPs) in dopaminergic gene (C252T, C1804T, and C1820T in DAT gene, and T1054C and C1072T in DRD(2) gene) to stuttering in Han Chinese individuals, a case-control study involving 112 patients with stuttering and 112 gender-matched controls was carried out. Genotyping was performed by a combined approach using polymerase chain reaction (PCR) and pyrosequencing.

RESULTSC1804T showed no polymorphism in either the patients or the control subjects and was therefore excluded from the following analysis. The C allele frequency at C1072T site was significantly higher, but T allele frequency significantly lower in the stuttering group than in the control group. The patients had significantly higher CC and lower CT genotype frequencies than the control group. There were no significant differences in the allelic frequencies of C252T, C1820T and T1054C between the patients and the controls, suggesting a Hardy-Weinberg equilibrium at these 3 loci.

CONCLUSIONThe presence of the C allele at C1072T in DRD(2) gene is associated with increased susceptibility to stuttering in Han Chinese, whereas the T allele provides protection against the onset of stuttering.

Adult ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; China ; ethnology ; Dopamine Plasma Membrane Transport Proteins ; genetics ; Female ; Genotype ; Humans ; Male ; Polymorphism, Single Nucleotide ; Receptors, Dopamine D2 ; genetics ; Stuttering ; genetics ; Young Adult

Priapism is an abnormal persistent penile erection that continues for more than 4 hours, without sexual stimulation according to the definition of the AUA (American Urological Association) guideline on the management of priapism. It was relatively rare in the past but has been increasing in the incidence since the advent of pharmacological agents. Stuttering priapism is a recurrent form of ischemic priapism and its treatment goal is to prevent the recurrences of priapism and resultant erectile dysfunction. We present the case of a patient who took tadalafil and thereafter had idiopathic recurrent episodes of ischemic priapism during the sleep and we show several treatment options of stuttering priapism with review of recent related articles.
Carbolines ; Erectile Dysfunction ; Humans ; Incidence ; Male ; Penile Erection ; Priapism ; Recurrence ; Stuttering ; Tadalafil