Non-familial Group Research Articles

A novel NKX2–5 double variant corresponds with familial atrial septal defect with arrhythmia in Indonesia

Abstract Background The transcription factor NKX2–5 is essential for heart development during embryonic stages. The genetic variant of NKX2–5 is founded in many congenital heart diseases, especially atrial septal defect (ASD). Most of NKX2–5 variants in Asia based on Chinese population are single nucleotide polymorphisms. Whether the same variant of NKX2–5 is also involved in Southeast Asia population is still unknown. Therefore, we investigate the NKX2–5 variant in atrial septal defect population in Indonesia. Purpose To investigate the genetic variation of NKX2–5 in ASD in Indonesian population. Methods We screened 97 patients with ASD (including 23 familial patients) for sequence variant in NKX2–5. DNA samples were extracted from venous blood samples. The whole two coding exons of the NKX2–5 gene from DNA samples were amplified by multiplex PCR and directly sequenced. Variations were detected by comparison with the standard reference genome. The distribution of genotype frequency in atrial septal disease familial and non-familial were analyzed. Results We identified a novel heterozygous DNA sequence double variant (c413 G>A, rs1366528649 and c561 G>C, rs767559311) in exon 2 of NKX2–5 gene was identified only in 3 familial ASD patients. These patients are related to first-degree relatives. Patients with these double variants have septal defects and arrhythmias in young-to middle-aged adults (sinus node dysfunction dan atrial tachycardia). Moreover, one reported single nucleotide polymorphisms (SNPs) (c63 A>G, rs2277923) was detected in 83 patients (85.6%), as 20 patients (87%) were present among the familial group, and 63 patients (85.1%) were found from the non-familial group. The distribution of rs2277923 variation among the familial and non-familial groups was not different. Variation of rs2277923 has 2 genotypes: homozygous AG presented in 42 patients (43.3%) and heterozygous AG shown in 41 patients (42.3%). The distribution of both genotypes is also similar between familial and non-familial groups. Conclusions We discovered that the novel NKX2–5 double variants (rs1366528649 and rs767559311) might contribute to familial ASD risk, although the rs2277923 is the most commonly found variant in ASD patients in Indonesia. Funding Acknowledgement Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Dana Masyarakat Faculty of Medicine, Public Health and Nursing UGM fiscal years 2020

Comparison of Clinical Features and CT Temporal Changes Between Familial Clusters and Non-familial Patients With COVID-19 Pneumonia.

Purpose: This study aimed to compare the clinical characteristics, laboratory findings, and chest computed tomography (CT) findings of familial cluster (FC) and non-familial (NF) patients with coronavirus disease 2019 (COVID-19) pneumonia.Methods: This retrospective study included 178 symptomatic adult patients with laboratory-confirmed COVID-19. The 178 patients were divided into FC (n = 108) and NF (n = 70) groups. Patients with at least two confirmed COVID-19 cases in their household were classified into the FC group. The clinical and laboratory features between the two groups were compared and so were the chest CT findings on-admission and end-hospitalization.Results: Compared with the NF group, the FC group had a longer period of exposure (13.1 vs. 8.9 days, p < 0.001), viral shedding (21.5 vs. 15.9 days, p < 0.001), and hospital stay (39.2 vs. 22.2 days, p < 0.001). The FC group showed a higher number of involved lung lobes on admission (3.0 vs. 2.3, p = 0.017) and at end-hospitalization (3.6 vs. 1.7, p < 0.001) as well as higher sum severity CT scores at end-hospitalization (4.6 vs. 2.7, p = 0.005) than did the NF group. Conversely, the FC group had a lower lymphocyte count level (p < 0.001) and a significantly lower difference in the number of involved lung lobes (Δnumber) between admission and discharge (p < 0.001). Notably, more cases of severe or critical illness were observed in the FC group than in the NF group (p = 0.036).Conclusions: Patients in the FC group had a worse clinical course and outcome than those in the NF group; thus, close monitoring during treatment and follow-ups after discharge would be beneficial for patients with familial infections.

Clinical profile and outcome of familial versus non-familial atrial fibrillation

BackgroundThere is paucity of information on clinical characteristics and outcome of patients with familial atrial fibrillation (AF). The present study was aimed to compare clinical profile and outcome of familial AF with those of non-familial AF. MethodsBetween February 2017 and February 2018, we enrolled 738 participants (60% men, median age, 51 years in familial AF vs. 61 years in non-familial AF) from Iranian Registry of AF. All patients were followed for 12 months. Clinical characteristics and main outcome measures for AF patients were obtained from patient's medical records. ResultsA positive history of AF in first-degree relative was reported in 15.3% of our AF population. Familial AF group were significantly younger than non-familial group (p = 0.001). Concomitant sinus node dysfunction and cardiomyopathies were more common in familial AF group (p = 0.02, p = 0.004, respectively). Patients with familial AF were also likely to receive cardiac devices and AF catheter ablation (all p < 0.05). However, all-cause mortality and thromboembolic events were similar (all p > 0.05). ConclusionsFamilial AF patients were more likely to have associated rhythm disorders and dilated cardiomyopathies. Cardiac interventions were also more common in familial patients. However, they did not differ significantly in their long-term outcome.

Mutations analysis of BRCA1 gene in patients with breast cancer in South Khorasan province, East Iran

Background: Breast cancer (BC) is well-known as the most common malignancy and the first leading cause of cancer-related death among women worldwide. Evidence suggests that familial history and age are important risk factors for the development of this disease in Iran. Mutations in BRCA1 and BRCA2 genes are the cause of 5 to 10% of hereditary BC. Recent studies demonstrated that mutations in BRCA1 were observed in high-risk women with family histories of BC. However, to date, the mutations have not been elucidated in BC patients from east of Iran. The purpose of this study was to analyze BRCA1 mutations in BC patient from South Khorasan Province. Methods: In the present study, 88 BC patients (11 positive family history) were screened for mutations in BRCA1. The analysis of BRCA1 was carried out by SSCP (single-strand conformation polymorphism) for shorter exons and direct sequencing in the case of longer ones. Results: Twenty-eight of the patients (31.8%) had a synonymous mutation (c.4308T>C) in exon 13. A missense mutation (c. 4837A>G) was presented in exon 16 with a frequency of 56.8 %. In exon 11 three missense mutations were observed, and the frequency rate for c.3113A>G was 32.5%, for c.3119G>A was 5%, and the highest frequency belonged to c.3548A>G with 72.4% in familial BC and 45.4% in the non-familial group. Conclusion: In our study, five mutations were found, but none of the founder mutations were identified in this population. Two missense mutations in exon 16 (56.8%) and in exon 11 (65%) had the highest frequency in South Khorasan Province.

Mutations analysis of BRCA1 gene in patients with breast cancer in South Khorasan province, East Iran

Background: Breast cancer (BC) is well-known as the most common malignancy and the first leading cause of cancer-related death among women worldwide. Evidence suggests that familial history and age are important risk factors for the development of this disease in Iran. Mutations in BRCA1 and BRCA2 genes are the cause of 5 to 10% of hereditary BC. Recent studies demonstrated that mutations in BRCA1 were observed in high-risk women with family histories of BC. However, to date, the mutations have not been elucidated in BC patients from east of Iran. The purpose of this study was to analyze BRCA1 mutations in BC patient from South Khorasan Province. Methods: In the present study, 88 BC patients (11 positive family history) were screened for mutations in BRCA1. The analysis of BRCA1 was carried out by SSCP (single-strand conformation polymorphism) for shorter exons and direct sequencing in the case of longer ones. Results: Twenty-eight of the patients (31.8%) had a synonymous mutation (c.4308T>C) in exon 13. A missense mutation (c. 4837A>G) was presented in exon 16 with a frequency of 56.8 %. In exon 11 three missense mutations were observed, and the frequency rate for c.3113A>G was 32.5%, for c.3119G>A was 5%, and the highest frequency belonged to c.3548A>G with 72.4% in familial BC and 45.4% in the non-familial group. Conclusion: In our study, five mutations were found, but none of the founder mutations were identified in this population. Two missense mutations in exon 16 (56.8%) and in exon 11 (65%) had the highest frequency in South Khorasan Province.

Risk factors for familial and nonfamilial young ischemic stroke

Aim In this study, the authors presented the 10-year survey on risk factors among young patients with ischemic stroke according to their family history.Patients and methods The population includes 92 young patients with ischemic stroke who had been admitted at Neurology Department of Pyongyang Medical College Hospital, Kim Il Sung University, between January 2007 and August 2016. Among them, young patients with familial history of ischemic stroke were 34 (11 females and 23 males), with a mean age of 38.9±3.54 years, and nonfamilial ones were 58 (13 females and 45 males), with mean age of 37.5±4.21 years (18–44 years old).Results Young patients with familial history of ischemic stroke with 5–10 risk factors were more than nonfamilial group, but young patients with nonfamilial ischemic stroke with 10–15 risk factors were more than familial group. Moreover, the effect of each risk factor is different in the two groups.Conclusion Incidence of young ischemic stroke is different between familial and nonfamilial groups, and nonfamilial patients have more risk factors than familial ones.

Comparision of the Characteristics of Familial and Sporadic Cases in Patients with Gastric Cancer

In this study, it was aimed to find the percentage of the non-familial and familial cases and comparison of their characteristic susing 2004 Canadian criteria in our cancer patients. The data from the files of 200 patients with histopathologically proven gastric cancer registered in our Medical Oncology Clinic were evaluated between January 2001 and December 2005. In our study, the ratio of familial cases is 10%. The mean ages of the patients are 56.44±0.78 in non-familial group and 53.30±2.90 in familial group. There were 113 males (62.77%), 67 females (37.23%) in non-familial group and 14 males (70%), 6 females (30%) in familial group. Histological types in familial and non-familial groups are; intestinal type 23.8% (n:3) and 75.23% (n:82); diffuse type 76.92% (n:10) and 24.77% (n:27) (p<0.01), respectively. The rate of cancers in localized stages are 5% (n:1) and 26,67% (n:48); where as the rates of advanced-stage cancers were 95% (n:19) and 73.33% (n:132) (p<0.01) in familial and non-familial groups respectively. Non-familial patients were 9.38% (n:12) Hp negative and 90.62% (n:116) were Hp positive where as familial cases were 100% (n:13) Hp positive (p<0.01). Blood groups in familial and non-familial groups are; Group A were 33.33% (n=2) and 58.46% (n:38); group B were 16.67% (n:1) and 10.77% (n:7), group O were 50% (n:3) and 29.23% (n:19) respectively. One patient (1.54%) in non-familial group was AB positive. Endoscopic screening should strongly be suggested in cases of unexplained upper abdominal complaints, especially for those people living in rural area in Van region.

Year in review 2010: Interstitial lung diseases, acute lung injury, sleep, physiology, imaging, bronchoscopic intervention and lung cancer

Year in review 2010: Interstitial lung diseases, acute lung injury, sleep, physiology, imaging, bronchoscopic intervention and lung cancer

Cognition, psychosocial adjustment and coping in familial cases of velocardiofacial syndrome

Velocardiofacial syndrome (VCFS) is characterized by both physical manifestations and neuropsychiatric disabilities. About 6-28% of cases are familial. The aim of the present study was to compare the clinical characteristics of subjects with familial and nonfamilial VCFS, with a special focus on cognitive and psychiatric disabilities. In addition, the complexities of coping with the disease in families in which both a parent and children are affected were highlighted in case vignettes. Sixteen patients from six families with VCFS were compared to 63 subjects with nonfamilial VCFS for physical parameters, IQ, and rate of major psychiatric disorders. After controlling for the effect of age, IQ was significantly lower in the familial compared to the nonfamilial group of VCFS patients. Rate of psychiatric disorders was similarly high in both groups. The familial group had fewer cardiac and palate anomalies. A significant negative correlation was found between IQ and age. Most of the adults with familial VCFS were neuropsychiatrically disabled. Thus, although familial VCFS seems to be associated with a milder physical phenotype than nonfamilial VCFS, the neuropsychiatric deficits are significant in both types, at all ages.

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.

Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, c.35delG, accounts for the majority of mutations in Caucasian patients with HI. In the present study we screened 500 healthy control individuals and a group of patients with HI from Northeastern Hungary for GJB2 mutations. The patients' group consisted of 102 familial from 28 families and 92 non-familial cases. The most common mutation in the Hungarian population is the c.35delG, followed by the c.71G>A (p.W24X) mutation. 34.3% of the patients in the familial group were homozygous, and 17.6% heterozygous for 35delG. In the non-familial group the respective values were 37% and 18% (allele frequency: 46.2%). In the general population an allele frequency of 2.4% was determined. Several patients were identified with additional, already described or new GJB2 mutations, mostly in heterozygous state. The mutation c.380G>A (p.R127H) was formerly found only in heterozygous state and its disease relation was controversial. We demonstrated the presence of this mutation in a family with three homozygous patients and 4 heterozygous unaffected family members, a clear indication of recessively inherited HI. Furthermore, we provided evidence for the pathogenic role of two new mutations, c.51C>A (p.S17Y) and c.177G>T (p.G59V), detected in the present study. In the latter case the pattern of inheritance might be dominant. Our results confirm the importance of GJB2 mutations in the Hungarian population displaying mutation frequencies that are comparable with those in the Mediterranean area.

Haptoglobin polymorphism in breast cancer patients form Jordan

Background: Previous reports regarding the occurrence of breast cancer and its association with Hp polymorphism are conflicting. The possible role of family history as a factor in determining the degree of association between the disease and Hp polymorphism has not been reported before. In this study, the distribution of haptoglobin phenotype among patients with familial and nonfamilial breast cancer was investigated. Methods: Haptoglobin phenotypes were determined in serum of 128 breast cancer patients (familial, n=42; nonfamilial, n=86) and in controls ( n=200) by vertical polyacrylamide gel electrophoresis. Results: No significant difference of Hp phenotype distribution was observed between patients as a combined group when compared with the control group. In the familial group, the frequency of Hp1-1 and Hp2-1 phenotype distribution was higher and Hp2-2 was lower than that in the nonfamilial and the control groups. Similar but inversed Hp distribution pattern was observed in the nonfamilial group when compared with that in the other groups. An appreciable finding is the observation that Hp2-2 phenotype frequency in the nonfamilial group was significantly higher than that in the familial group ( p=0.0365). Conclusions: Results of this study demonstrate that the pattern of Hp phenotype distribution in breast cancer patients is family history-dependent. Hp1 and Hp2 allele frequencies were over-represented in patients with familial and nonfamilial breast cancer, respectively. The pattern is probably attributed to genetic and oxidative stress mechanisms.

Evidence for a late onset bipolar-I disorder sub-group from 50 years

Background: Age of onset has been used to identify aetiological sub-groups in complex inherited disorders such as Alzheimer’s disease and osteoarthritis. We examined the relationship between age of onset and family history in bipolar-I disorder in an attempt to identify subgroups. Methods: All patients discharged from a district in-patient service diagnosed with bipolar disorder in a 7-year period were ascertained from a case register ( n=277). Diagnosis by DSM-IIIR criteria was confirmed; family history and age of first admission were recorded from case notes. Results: Age of first admission in those with a negative family psychiatric history was significantly older ( P=0.029) with a skewed age distribution. This non-familial group contained significantly more subjects with first admission from the age of 50 years ( P=0.007). Conclusions: Patients with bipolar-I disorder whose age of first admission is 50 years or above may belong to a different aetiological sub-group.

Expression of HER-2/NEU oncoprotein in familial and non-familial breast cancer.

The HER-2/neu proto-oncogene amplification or oncoprotein overexpression is an important prognostic factor and a predictive factor for resistance to endocrine therapy and adjuvant chemotherapy in breast cancers. Moreover, it is an entry criterion in the assessment of patients for whom Herceptin (Trastuzumab) treatment is considered. The overexpression rate of HER-2/neu oncoprotein has been identified in 10% to 40% of human breast cancers. In Taiwan, a higher grade of pathobiologic characteristics of familial breast cancer was also noted than that found in the non-familial group. It is worthwhile to evaluate whether the overexpression is more frequent in familial breast cancers. Fifty-six familial and 111 non-familial breast cancers were studied between 1990 and 1999 to assess both the overexpression of HER-2/neu oncoprotein immunohistochemically and the correlation with the histological type, grade and stage of breast carcinoma. The overexpression rate is higher in the familial breast cancer group (50.0%) when compared with non-familial breast cancer group (36.9%), which did not prove to be statistically significant (P = 0.1068). However, when the infiltrating ductal carcinomas of both groups are compared, it is statistically significant (52.3% vs. 33.7%, P = 0.0429). Overexpression correlated with node status and histological grade of infiltrating ductal carcinomas in non-familial and overall breast cancers. It also correlated with nuclear pleomorphism and mitotic counts, but not tubule formation or tumor size. All 3 cases of Paget's disease revealed overexpression, whereas all 12 cases of mucinous and one case of metaplastic carcinoma and one case of medullary carcinoma were negative. The overexpression rate was higher both in familial and non-familial intraductal carcinomas (57.1% vs. 73.3%, P = 0.4716). No statistical difference was identified between the 2 subsets. A case of infiltrating ductal carcinoma combined with intraductal carcinoma revealed heterogeneous staining in the component of ductal carcinoma in situ, while the invasive component did not. This suggests that overexpression decreases within individual tumors as they evolve from in situ to invasive lesioins. The HER-2/neu may imply a different role in intraductal carcinoma, Paget's disease and invasive duct carcinoma. Although the overexpression rate of HER-2/neu oncoprotein of familial breast cancer was not significantly higher than that of the non-familial group, it is appropriate to evaluate the rate of HER-2/neu overexpression according to the histological type of breast cancers from familial breast cancer and non-familial breast cancer. The prognoses will be needed for future evaluation.

Abstracts of Literature

Abstracts of Literature

Psychobiological heterogeneity of familial and sporadic schizophrenia

Although schizophrenia is presumed to be heterogeneous, there has been limited success distinguishing familial from sporadic cases. We used psychobiological measures to examine heterogeneity, as they may be closer to neurobiology than symptoms. Smooth pursuit eye movement quality (SPEM) and dichotic listening (DL) tests to tones and words were used to assess hemispheric laterality asymmetry. Forty-six research unit patients participated in assessments of family history (FH) and physiological measures. FH was categorized by three exclusive groups: FH-1 patients had a chronic schizophrenia-related psychosis in a first-degree relative, FH-2 had it in second-degree relative, and FH-3 had no family member with a reoccurrence. Analysis of variance showed a significant group difference for SPEM and DL tones. SPEM was significantly worse in all three schizophrenia groups than for the normal comparison subjects. Among the schizophrenia groups, the nonfamilial group (FH-3) had the worst SPEM quality, FH-2 had intermediate quality, and FH-1 had the best quality. Conversely, only the nonfamilials (FH-3) had normal right hemispheric lateralization for tones, whereas familials did not, and FH-2 again had intermediate values. The lateralization quotient for DL words did not significantly differ among the groups. SPEM was affected most in sporadic, not familial schizophrenia, whereas dichotic listening was most affected in familial schizophrenia. This double dissociation supports the utility of the familial/sporadic distinction and suggests that etiological factors in different forms of schizophrenia may impact principally on distinct neurobiological substrates, despite similar patient phenomenology.

Familial intracranial aneurysms: recurrence risk and accidental aggregation study.

The Saguenay-Lac-Saint-Jean (SLSJ) region is a geographically isolated area (population 285,955) located in the Northeastern part of the Province of Quebec, Canada. Using a population-based register, the genealogical reconstruction of 502 individuals with ruptured intracranial aneurysm (RIA) showed a familial aggregation (the presence of aneurysm in two or more first- to third-degree relatives) for 144 (28.7%) of them; this proportion is much higher than reported elsewhere. In order to assess the genetic predisposition to RIA in the SLSJ population, the objective of the present study is to compare familial and non-familial cases and to provide an estimate of the recurrence risk ratio for siblings. The age at the time of rupture, the number of intracranial aneurysms for each patient and the location of RIAs were not statistically different in the familial versus the non-familial group. Of the 3449 siblings, 20 (0.58%) had suffered a RIA. The recurrence risk ratio calculated for siblings (defined as the risk of disease among siblings divided by the estimated population prevalence) is 1.6 (CI 95% 1.0-2.4). In other respects, we observed very large kinships in the SLSJ population, with an average number of siblings of 7.2 (SD +/- 3.4), ranging from 0 to 17 individuals. With such large families and on the basis of chance alone, we expected 31.3% of the patients to have at least one first- to third-degree relative with RIA. These data show that siblings of patients with RIA in the SLSJ population have a greater risk of RIA than the general population. Nevertheless, the largest part of the familial occurrence observed in the SLSJ region can be explained by accidental aggregation, due to large kinships. We propose that, in this population, an underlying genetic predisposition must be suspected only when three or more cases of RIA are identified among first- to third-degree relatives.

Effects of handedness and script types on visual-field differences in the mental addition task.

The effects of handedness and script types on the difference in performance in a mental addition task by visual field were examined. Right-handers, nonfamilial left-handers, and familial left-handers who were all native speakers of Japanese were asked to add two numbers presented in the visual half-fields tachistoscopically. The two numbers were displayed either to one visual field (left or right visual field) or to the center. The numbers were displayed in Arabic, in Kanji, or in Arabic and Kanji numerals (one in Arabic and the other in Kanji: Mixed stimuli). The subjects were asked to add the two numbers and to state the sum orally. In the right-handers group, a right visual-field advantage was found for the Arabic condition but not for the Kanji or Mixed stimuli. On the other hand, in the nonfamilial and familial left-handers group, no visual-field difference in any of the conditions was found. These findings suggest that pattern of cerebral lateralization for familial and nonfamilial left-handers is the same but it is different from that of right-handers.

A clinical and serological comparison of familial and non-familial systemic lupus erythematosus in Ireland.

Seventeen families, in which the diagnosis of SLE could be verified in two relatives, were included in the study. The diagnosis was made according to the revised 1982 ARA criteria. We compared the 34 cases of familial SLE in these 17 families with 34 non-familial SLE controls matched for age, sex, ethnicity and duration of disease. Comparisons were made for the presence of 26 clinical and 11 serological features. The frequency of clinical features was similar between the groups. The frequency of anti-Ro antibody was higher in the non-familial group (15 out of 34 compared to 6 out of 34, P = 0.036, McNemar's test), although this was not significant after application of Bonferoni's correction for the number of comparisons. No cases of familial IgA or familial complement deficiency were identified. It was noted that 10 of the 34 non-familial patients and only one of the familial patients had the combination of anti-Ro antibody and photosensitivity. The findings of this study support the hypothesis that familial SLE and non-familial SLE are the same clinical entity, although there are differences in the subtypes of disease.

Familial dilated cardiomyopathy: a worse prognosis compared with sporadic forms.

To establish the time of onset of dilated cardiomyopathy (DCM) by review of annual chest x rays, which are obligatory in Hungary. A retrospective survey of chest x rays of a cohort of confirmed cases of DCM, to assess time of onset of cardiomegaly. Clinical course was compared by follow up over a mean of six years from the time of diagnosis. 240 patients with DCM (31 familial, 209 non-familial). Diagnosis was made by echocardiography in all cases and confirmed by coronary angiography and heart biopsy in some cases. At diagnosis, the mean age of the patients was 31.8 years in the familial group and 39.6 years in the non-familial group (P < 0.05). The time between the onset of cardiomegaly (cardiothoracic ratio > 0.45) and clinical diagnosis was 8.0 and 10.1 years respectively (P < 0.05). The six year survival was 6% in the familial group and 23% in the non-familial group (P < 0.05). The familial form of DCM is the more malignant form: it occurs at an earlier age and progresses more rapidly than non-familial DCM.

Carotid body tumors: a review of 30 patients with 46 tumors.

Minimal morbidity occurs with resection of most carotid body tumors (CBT). With larger tumors significant injury to the cranial nerves has been reported. In order to assess the operative sequelae rate, 30 patients with CBT were reviewed. Sixteen patients either presented with bilateral carotid body tumors or had previously undergone a resection of the contralateral carotid body tumors, for a total carotid body tumor count of 46. Sixteen patients demonstrated a familial pattern while 14 were nonfamilial. Within the familial group, 14 of 16 presented with multiple paragangliomas as compared to 6 of 14 in the nonfamilial group. Tumor size ranged from 0.8 to 12 cm. Vascular replacement occurred in 2 of 20 patients with tumors < 5.0 cm, compared with 5 of 9 with tumors > 5.0 cm. Four patients lost cranial nerves with the resection: superior laryngeal nerve (SLN), 4; cranial nerve X, 1; cranial nerve XII, 1. Ten patients developed baroreceptor failure secondary to bilateral loss of carotid sinus function. First-bite pain occurred in 10 of 25 operative patients. Cranial nerve loss can be minimal with resection of carotid body tumors, however, baroreceptor failure and first-bite pain are postoperative sequelae that are often disregarded in the postoperative period.