scholarly journals True Hemifacial Hyperplasia-Clinical Presentations and Treatment Options

2017 ◽  
pp. 52-54 ◽  
Author(s):  
Anuna Laila Mathew ◽  
Renu Mathew ◽  
Gibi Syriac ◽  
Joe Joseph

Congenital hemifacial hyperplasia (CHFH) is a rare congenital malformation characterized by marked unilateral overdevelopment of the hard and soft tissues of the head and face region. The exact etiology is not clear; it is usually evident at birth and increases with age, mostly till puberty. In some cases multiple systems are involved. Treatment is usually indicated in cases where esthetics is a concern. A 6 year old female reported to the Department of Oral Medicine and Radiology with the features of congenital hemifacial hyperplasia, we are making an attempt to present a rare case of CHFH in order to highlight the clinical manifestations and treatment options.

2005 ◽  
Vol 102 (3) ◽  
pp. 476-481 ◽  
Author(s):  
Yuhei Yoshimoto ◽  
Katsumi Hoya ◽  
Yoshihiro Tanaka ◽  
Takanori Uchida

Object. Little is understood about the clinical manifestations of basilar artery (BA) dissections, which can present with subarachnoid hemorrhage (SAH), brainstem compression, or ischemia. In any instance, the prognosis seems poorer than that for vertebral artery (VA) dissection. The authors analyzed clinical presentations and radiological features of BA dissection with and without rupture. Methods. Between 1998 and 2003, the authors treated 10 patients (eight men and two women, ranging in age from 32–78 years; mean age 54 years) with BA dissection. Diagnosis was based on clinical and radiological findings, including those from magnetic resonance imaging and cerebral angiography studies. Of the 10 patients, five had impaired consciousness at disease onset. Among four patients presenting with SAH, two were treated conservatively and had fair outcomes without recurrent hemorrhage. The other two patients with SAH were treated using unilateral endovascular VA occlusion, but one of them subsequently suffered fatal rebleeding. A fifth patient presented with progressive signs of a mass involving the brainstem, whereas the remaining five patients showed brainstem ischemia; all were treated conservatively. Four patients could not return to their previous daily activities. Conclusions. Basilar artery dissections are rare lesions associated with significant morbidity and death. The natural course of and the treatment options for BA dissection differ considerably from those for VA dissections. Management of these lesions is controversial and difficult, and requires particular care.


Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 422
Author(s):  
Melinda R. Story ◽  
Kevin K. Haussler ◽  
Yvette S. Nout-Lomas ◽  
Tawfik A. Aboellail ◽  
Christopher E. Kawcak ◽  
...  

Interest in the cervical spine as a cause of pain or dysfunction is increasingly becoming the focus of many equine practitioners. Many affected horses are presented for poor performance, while others will present with dramatic, sometimes dangerous behavior. Understanding and distinguishing the different types of neck pain is a starting point to comprehending how the clinical presentations can vary so greatly. There are many steps needed to systematically evaluate the various tissues of the cervical spine to determine which components are contributing to cervical pain and dysfunction. Osseous structures, soft tissues and the central and the peripheral nervous system may all play a role in these various clinical presentations. After completing the clinical evaluation, several imaging modalities may be implemented to help determine the underlying pathologic processes. There are multiple treatment options available and each must be carefully chosen for an individual horse. Provided is a synopsis of the current knowledge as to different disease processes that can result in cervical pain and dysfunction, diagnostic approaches and treatment strategies. Improving the knowledge in these areas will ideally help to return horses to a state of well-being that can be maintained over time and through the rigors of their job or athletic endeavors.


2019 ◽  
Vol 21 (10) ◽  
pp. 734-748 ◽  
Author(s):  
Baoling Guo ◽  
Qiuxiang Zheng

Aim and Objective: Lung cancer is a highly heterogeneous cancer, due to the significant differences in molecular levels, resulting in different clinical manifestations of lung cancer patients there is a big difference. Including disease characterization, drug response, the risk of recurrence, survival, etc. Method: Clinical patients with lung cancer do not have yet particularly effective treatment options, while patients with lung cancer resistance not only delayed the treatment cycle but also caused strong side effects. Therefore, if we can sum up the abnormalities of functional level from the molecular level, we can scientifically and effectively evaluate the patients' sensitivity to treatment and make the personalized treatment strategies to avoid the side effects caused by over-treatment and improve the prognosis. Result & Conclusion: According to the different sensitivities of lung cancer patients to drug response, this study screened out genes that were significantly associated with drug resistance. The bayes model was used to assess patient resistance.


2020 ◽  
Vol 267 (10) ◽  
pp. 2865-2870
Author(s):  
Torstein R. Meling ◽  
Aria Nouri ◽  
Adrien May ◽  
Nils Guinand ◽  
Maria Isabel Vargas ◽  
...  

Abstract Introduction CNS cavernomas are a type of raspberry-shaped vascular malformations that are typically asymptomatic, but can result in haemorrhage, neurological injury, and seizures. Here, we present a rare case of a brainstem cavernoma that was surgically resected whereafter an upbeat nystagmus presented postoperatively. Case report A 42-year old man presented with sudden-onset nausea, vomiting, vertigo, blurred vision, marked imbalance and difficulty swallowing. Neurological evaluation showed bilateral ataxia, generalized hyperreflexia with left-sided predominance, predominantly horizontal gaze evoked nystagmus on right and left gaze, slight left labial asymmetry, uvula deviation to the right, and tongue deviation to the left. MRI demonstrated a 13-mm cavernoma with haemorrhage and oedema in the medulla oblongata. Surgery was performed via a minimal-invasive, midline approach. Complete excision was confirmed on postoperative MRI. The patient recovered well and became almost neurologically intact. However, he complained of mainly vertical oscillopsia. The videonystagmography revealed a new-onset spontaneous upbeat nystagmus in all gaze directions, not suppressed by fixation. An injury of the rarely described intercalatus nucleus/nucleus of Roller is thought to be the cause. Conclusion Upbeat nystagmus can be related to several lesions of the brainstem, including the medial longitudinal fasciculus, the pons, and the dorsal medulla. To our knowledge, this is the first case of an iatrogenic lesion of the nucleus intercalatus/nucleus of Roller resulting in an upbeat vertical nystagmus. For neurologists, it is important to be aware of the function of this nucleus for assessment of clinical manifestations due to lesions within this region.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jeong-Seon Lee ◽  
Joong-Gon Kim ◽  
Soyoung Lee

AbstractChildhood-onset polyarteritis nodosa (PAN) is a rare and systemic necrotising vasculitis in children affecting small- to medium-sized arteries. To date, there have been only a few reports because of its rarity. Thus, we aimed to investigate the clinical manifestations, laboratory findings, treatment, and long-term outcomes in patients with childhood-onset PAN and to evaluate the usefulness of the paediatric vasculitis activity score (PVAS). We retrospectively analysed the data of nine patients with childhood-onset PAN from March 2003 to February 2020. The median ages at symptom onset, diagnosis, and follow-up duration were 7.6 (3–17.5), 7.7 (3.5–17.6), and 7.0 (1.6–16.3) years, respectively. All patients had constitutional symptoms and skin manifestations, while five exhibited Raynaud’s phenomenon. Organ involvement was observed in one patient. The median PVAS at diagnosis was 7 (range: 2–32). Prednisolone was initially used for induction in all patients, and other drugs were added in cases refractory to prednisolone. All patients survived, but three patients with high PVAS at diagnosis experienced irreversible sequelae, including intracranial haemorrhage and digital amputation. In conclusion, early diagnosis and treatment may minimise sequelae in patients with childhood-onset PAN. This study suggests that high PVAS score at diagnosis may be associated with poor prognosis.


2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jeff John ◽  
Ken Kesner ◽  
John Lazarus

Abstract Background Squamous cell carcinoma (SCC) of the scrotum was the first malignancy known to be associated with exposure to an occupational carcinogen—in this case, soot trapped in the breeches of chimney sweeps. Better civil rules and regulations and the replacement of hearths with other forms of heating have rendered SCC of the scrotum a rarity. We report two cases of scrotal SCC with vastly differing clinical presentations and management. Case presentation Case 1 had T1 N0 M0 disease and presented with a small (< 2 cm), innocuous-looking, non-healing ulcer of eight years duration. A punch biopsy revealed a superficially invasive SCC confirmed on immunohistochemical profiling. A wide local excision of the lesion was subsequently performed. Follow-up at three years showed no signs of recurrence. Case 2 presented with T4 N1 M1 disease and rapidly progressing locally destructive mass. A punch biopsy of the scrotal lesion confirmed invasive moderately differentiated focally keratinising SCC. The metastatic evaluation confirmed the presence of metastatic, extensive para-aortic lymphadenopathy. He was managed with cisplatin-based chemoradiotherapy. Conclusion Early detection and management of patients with SCC of the scrotum are essential. If the diagnosis is delayed, treatment options become limited, and the prognosis is poor. Notwithstanding the rarity of this disease, multicentre trials are needed to provide more precise guidelines as to the optimal management of these patients.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nilanka Wickramasinghe ◽  
Dhanushka Dasanayake ◽  
Neelika Malavige ◽  
Rajiva de Silva ◽  
Thashi Chang

Abstract Background Autoimmune encephalitis (AE) is now considered a main, potentially curable cause of encephalitis, but remains conspicuously underreported from South Asia. We studied the clinical characteristics in relation to their antibody status and outcomes of patients presenting with AE in Sri Lanka. Methods Patients admitting to government hospitals who were clinically suspected of AE by an on-site neurologist were prospectively recruited over a period of 12 months. Sera and cerebrospinal fluid were tested for NMDAR, AMPAR1, AMPAR2, LGI1, CASPR2, GABARB1/B2 antibodies (Ab) using commercial cell-based assays. Demographic, clinical and laboratory data were compiled into an investigator-administered proforma. Patients were reviewed at 1 year follow up either in person or via telephone. Results One-hundred and forty-two patients from 21 of 25 districts in Sri Lanka (median age = 20.5 years; range 1–86 years; females = 61.3%) were recruited. Of them, 65 (45.8%; median age = 19 years; range 1–86 years; females = 64.6%) fulfilled diagnostic criteria for probable NMDAR-antibody encephalitis (NMDARE) and 6 (4.2%; median age = 44 years; range 28–71 years; females = 83.3%) limbic encephalitis (LE). Abnormal behaviour (95.3%), seizures (81.5%) and movement disorders (69.2%) were the most frequent clinical manifestations of probable NMDARE. NMDAR-antibodies were detectable in 29 (44.6%) and not detectable in 36 in CSF of probable-NMDARE patients. Abnormal EEG was more frequent (p = 0.003) while a worse outcome (OR = 2.78; 95% CI = 0.88–9.09) and deaths (OR = 2.38; 95% CI = 0.67–8.33) were more likely in antibody-negative than antibody-positive probable-NMDARE. Most patients with LE had amnesia (50%) and/or confusion (100%) with agitation (83.3%) and seizures (100%) but none had detectable antibodies to any of the antigens tested. Conclusions NMDARE is the commonest type of AE among South Asians as is the case worldwide. Clinical presentations of NMDARAb-positive and NMDARAb-negative AE patients do not significantly differ but EEG may be a useful marker of an autoimmune basis for psychiatric symptoms.


Author(s):  
Jitesh Kumar Sharma ◽  
Rashim Kataria ◽  
Madhur Choudhary ◽  
Devendra Kumar Purohit

Abstract Introduction To present and discuss the clinical presentations, investigations, and treatment options for skull bone tumors. Materials and Methods This study was conducted from January 2019 to December 2019 at the Department of Neurosurgery. During this period, eight patients presented with skull bone tumor in the outpatient department. All patients were thoroughly investigated. Surgery was conducted on six patients and two patients had disseminated carcinoma; hence, surgery was not done. Patients were regularly followed-up after the surgery. Results In our study, out of eight cases, five were females and three were males. We had two cases of fibrous dysplasia, two cases of osteomas, and one case each of brown tumor, metastases from lung carcinoma, metastases from follicular carcinoma of thyroid, and Ewing sarcoma/primitive neuroectodermal tumor (PNET). Excision of tumor was performed where indicated and adjuvant chemo- and radiotherapy was suggested wherever required. Conclusion Bony tumors of the skull are uncommon diseases for the neurosurgeons. These tumors require a careful diagnosis with suitable radiological examinations and proper clinical correlation for proper management.


2021 ◽  
Vol 10 (5) ◽  
pp. 1073
Author(s):  
Patricia Martínez-Botía ◽  
Ángel Bernardo ◽  
Andrea Acebes-Huerta ◽  
Alberto Caro ◽  
Blanca Leoz ◽  
...  

The most severe clinical manifestations of the Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), are due to an unbalanced immune response and a pro-thrombotic hemostatic disturbance, with arterial hypertension or diabetes as acknowledged risk factors. While waiting for a specific treatment, the clinical management of hospitalized patients is still a matter of debate, and the effectiveness of treatments to manage clinical manifestations and comorbidities has been questioned. In this study, we aim to assess the impact of the clinical management of arterial hypertension, inflammation and thrombosis on the survival of COVID-19 patients. The Spanish cohorts included in this observational retrospective study are from HM Hospitales (2035 patients) and from Hospital Universitario Central de Asturias (72 patients). Kaplan Meier survival curves, Cox regression and propensity score matching analyses were employed, considering demographic variables, comorbidities and treatment arms (when opportune) as covariates. The management of arterial hypertension with angiotensin-converting enzyme 2 (ACE2) inhibitors or angiotensin receptor blockers is not detrimental, as was initially reported, and neither was the use of non-steroidal anti-inflammatory drugs (NSAIDs). On the contrary, our analysis shows that the use on itself of corticosteroids is not beneficial. Importantly, the management of COVID-19 patients with low molecular weight heparin (LMWH) as an anticoagulant significantly improves the survival of hospitalized patients. These results delineate the current treatment options under debate, supporting the effectiveness of thrombosis prophylaxis on COVID-19 patients as a first-line treatment without the need for compromising the treatment of comorbidities, while suggesting cautiousness when administering corticosteroids.


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