Michael J Goldstein

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This case series analyzed 15 real-world examples of errors and complications in genetic testing across multiple medical specialties, identifying recurring problems in communication, variant interpretation, and coordination between clinicians and laboratories. Themes included missed counseling opportunities, delayed diagnoses, and ordering tests without a clear reason. The cases make the case for genetic counselors to play a central role in designing structured workflows as genetic testing expands into mainstream medicine.

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A pediatric kidney transplant patient with antibody-mediated rejection — where the immune system attacks the donated organ — was treated with daratumumab, a drug that depletes plasma cells, and showed sustained improvement in kidney function and antibody levels one year later. This is among the first reported uses of daratumumab in a pediatric transplant patient. The case suggests daratumumab may be a promising treatment option for this serious rejection type in children.

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This systematic review of 15 studies covering over 6,200 patients found that the uterocervical angle — the angle between the uterus and cervix measured on ultrasound — is larger in women who deliver prematurely. However, uterocervical angle alone was not better than cervical length at predicting preterm birth, and combining the two did not improve prediction either. Cervical length remains the stronger predictive tool.

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A pediatric kidney transplant recipient developed a rare and severe kidney injury pattern called collapsing focal segmental glomerulosclerosis, caused by cytomegalovirus infection — the first such case reported in a child. Aggressive antiviral treatment and reduction of immunosuppression led to full recovery without lasting damage. The case highlights CMV as a cause of this injury pattern and suggests early genetic testing for APOL1 risk variants in both donor and recipient.

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This systematic review of 30 studies and 7,409 patients found that babies born preterm with gastroschisis — a birth defect where intestines protrude outside the abdomen — had longer hospital stays, more infections, more time on ventilators, and higher mortality than those born at term. Elective early-term delivery showed a possible reduction in infections compared to waiting longer. Evidence remains mixed, but preterm birth clearly worsens outcomes.

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An analysis of 21 targeted cancer drugs found that the drug level in the blood at approved doses was remarkably close to the concentration needed to inhibit cancer cells in lab tests — with a median ratio of 1.2. Three drugs had ratios much higher than the others, suggesting those kinase inhibitors may be dosed well above what is needed, potentially allowing lower, better-tolerated doses. The authors propose a revised clinical trial design that would expand dosing cohorts earlier when efficacy is already evident.

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Pre-transplant liver biopsy in marginal donors is safe and reduces the number of futile organ recoveries — procedures done to retrieve an organ that ultimately is not transplanted — without reducing the actual number of transplants performed. Analysis of over 1,300 donors across three organ procurement organizations showed fewer complications and a 3.5-fold increase in preempted recoveries in biopsied donors. Wider use of pre-recovery biopsy, especially in liver-only donors, could save significant cost and effort.

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This single-center study quantified total anesthesia time across the full course of growing rod treatment for early-onset scoliosis in 16 patients and found that standard planned procedures account for only 55% of total anesthesia time — revisions, wound complications, and adjunct surgeries make up the other 45%. Final fusion and revisions were the biggest contributors. Given growing concern about repeated anesthesia exposure in young children, the findings highlight an opportunity to reduce unnecessary exposures.

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A randomized phase 2 trial of 100 early-stage breast cancer survivors found that adding a survivorship care plan and quarterly patient navigator calls did not reduce the frequency of redundant breast exams compared to standard care. In fact, patients in the coordinated care group had more total physician visits. The high rate of unnecessary examinations in both groups — nearly half of patients in each arm had redundant exams — points to a broader systemic problem not solved by navigation alone.

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This case report describes a minimally invasive surgical technique for repairing a stress fracture in the pars interarticularis — a common injury in young athletes — using CT navigation and cortical screws connected by a curved rod passed through the spine's natural ligament structures. A 17-year-old competitive rower returned to full sports activity with no restrictions 16 months after surgery. The technique avoids disrupting the facet joint while still achieving solid fracture healing.

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HIV-positive kidney transplant recipients who had lower CD4 counts (200–349 cells/mm³) before transplant were far more likely to develop severe CD4 depletion after transplant than those with higher counts, and this depletion was linked to a higher rate of serious infections in the first 6 months. Rejection rates and graft survival were similar regardless of pre-transplant CD4 count. The findings argue for caution when using anti-thymocyte globulin in HIV-positive recipients with lower CD4 counts.

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A pilot New York City program to recover kidneys from out-of-hospital cardiac arrest patients who had not previously registered as donors found the effort unfeasible — no kidneys were recovered during the 6-month trial due to frequent protocol violations and difficulties determining eligibility. Despite this, most passersby and family members approached were receptive, with nearly all families not expressing negative reactions. The program identified significant operational barriers that must be addressed before such a model could be scaled.

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A study of 528 kidney transplant recipients showed that tacrolimus blood trough levels below 4.0 ng/mL were associated with a 6-fold higher rate of acute rejection during the first year after transplant. This relationship held even after controlling for other factors like race and delayed graft function. The findings support maintaining tacrolimus above 4.0 ng/mL throughout the first year to protect the transplanted kidney.

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During lateral lumbar interbody fusion surgery, where the femoral nerve is at particular risk, the authors propose using motor evoked potentials from the quadriceps muscles to detect femoral nerve injury in real time. Unlike at the nerve root level, the fully formed femoral nerve trunk has no redundant muscle coverage, so any complete block of its motor signals would abolish quadriceps responses entirely. Clinical experience showed this technique consistently detected nerve impingement, which resolved with prompt surgical adjustment.

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The authors challenge the dominance of U.S. News & World Report rankings for evaluating medical schools and propose a more objective model centered on measuring how effectively schools produce academic physicians who conduct research. They argue current rankings rely too heavily on subjective reputational surveys rather than quantifiable research output. A rigorous, transparent model would better identify which institutions truly advance biomedical science.

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A single-center study of 481 kidney transplant recipients identified four independent risk factors for developing new-onset diabetes after transplant: higher BMI, use of sirolimus for maintenance immunosuppression, non-white race, and older age. About half of patients with all four risk factors developed post-transplant diabetes. Experiencing acute rejection was also independently associated with new-onset diabetes, likely reflecting the diabetogenic effect of high-dose steroid treatment used to treat rejection.

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Among 628 kidney transplant recipients, new-onset diabetes after transplant did not increase the risk of graft loss or death — a better outcome than expected. Pre-existing diabetes was associated with higher rates of cardiovascular death and infection-related hospitalizations, but not graft failure. Over four successive randomized trials, average HbA1c levels among patients with diabetes declined, suggesting improving glucose management over time.

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A New York organ donor network established a voluntary on-call team of infectious disease physicians to evaluate donor candidates with elevated disease transmission risk and found that nearly half of evaluated donors were deemed too risky to use — preventing potentially harmful transplants. The other half proceeded to donation, yielding 49 transplanted organs. The program demonstrates that expert consultation for high-risk donors can improve safety while preserving the donor pool.

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Adding an anti-CD137 antibody to cetuximab — a drug targeting EGFR on cancer cells — dramatically enhanced tumor killing in mouse models of head and neck and colorectal cancer, achieving complete tumor resolution in ways cetuximab alone could not. The mechanism involves NK cells expressing CD137 after being activated by cetuximab, and the anti-CD137 drug then boosting those NK cells' killing ability. The findings support testing this sequential antibody strategy in cancer patients.

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A multi-center study of 428 machine-perfused donor kidneys found that pi-glutathione S-transferase in the perfusate solution at the end of machine perfusion was independently associated with the recipient experiencing delayed graft function — needing dialysis in the first week after transplant. Alpha-GST did not predict outcomes. Pi-GST may be a useful biomarker for identifying higher-risk kidneys and informing decisions about whether to use or discard them.

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A study of 651 biopsied deceased-donor kidneys found that pathological findings of acute tubular necrosis on pre-implant biopsy did not significantly predict delayed graft function overall, but in kidneys from donors after cardiac death, ATN was associated with a 59% higher risk of delayed graft function. There was no significant link between ATN and long-term graft failure in any group. Current ATN biopsy reporting may have limited practical value for accept/discard decisions.

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Adding hemoglobin A1c testing to the donor screening process at a New York organ procurement organization increased pancreas transplant utilization rates from roughly 18-21% to 27-32% over the following years. Use of both ideal and expanded criteria donors improved significantly. HbA1c testing identifies which donors had prolonged elevated blood sugar, helping transplant teams identify viable pancreata that would otherwise be declined.

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Analysis of organ donation authorization rates in New York showed large racial disparities, with Asian families authorizing donation at only 23% compared to 57% for Hispanic families. Racial concordance between the requesting coordinator and the donor family was associated with higher authorization rates, though this effect was smaller after adjusting for coordinator experience. These findings highlight the need for targeted outreach and communication strategies tailored to different communities.

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This review covers malignant bone tumors of the pediatric spine — including osteosarcoma, Ewing sarcoma, lymphoma, and metastatic neuroblastoma — emphasizing that rapid diagnosis and referral to specialized oncology centers is critical to outcomes. Advances in surgical technique, imaging, radiation, and chemotherapy have improved survival, particularly for lower-grade lesions. High-grade tumors with metastasis at presentation still carry very poor prognosis.

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A retrospective study found that machine-measured renal resistance at 3 and 5 hours of pump perfusion was the only donor or organ parameter significantly associated with one-year kidney graft survival, with higher resistance predicting worse outcomes. Other commonly tracked factors like donor age, creatinine, and biopsy findings showed no significant correlation. Machine resistance measured at 3 hours is the earliest reliable predictor of transplant success.

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This case report describes the first known catastrophic fracture of a second-generation highly cross-linked polyethylene patellar implant following a golf-related trauma 4 years after knee revision surgery. The implant failed in pieces despite proper component alignment. While cross-linked polyethylene offers better wear resistance, the cross-linking reduces resistance to crack initiation, and this fracture risk must be considered in active patients.

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This review covers innovations in organ donation over roughly the prior decade, including advances in brain death determination, deceased donor management, organ preservation techniques, and organ resuscitation methods. These improvements have expanded the viable donor pool, including greater use of marginal donors. Sharing of best practices across the donation community has been a key driver of gains in organ availability.

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An anti-CD137 antibody combined with trastuzumab — a drug used to treat HER2-positive breast cancer — produced stronger tumor killing in laboratory and mouse models than trastuzumab alone, including against a trastuzumab-resistant cell line. NK cells activated by trastuzumab upregulate CD137, and the anti-CD137 drug then amplifies their killing response. This sequential antibody strategy, first targeting the tumor then boosting the immune response, shows promise for improving outcomes in HER2-positive breast cancer.

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In a mouse lymphoma model, the authors found that CD4 T cells expressing CD137 were primarily immunosuppressive regulatory T cells that blocked anti-tumor immunity, while CD137-negative CD4 T cells with a memory marker were the effective tumor fighters. Removing CD137-positive cells before adoptive T cell transfer boosted anti-tumor activity. Consistent with mouse findings, human lymphoma tumors also contained CD137-positive CD4 T cells that were predominantly regulatory T cells.

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A kidney transplant patient developed a pulsatile blood-filled mass — a pseudoaneurysm — at the biopsy site one week after transplant, causing rapid graft dysfunction. Angiography confirmed the diagnosis and the pseudoaneurysm was successfully sealed with a coil, restoring graft function. Though rare, traumatic pseudoaneurysm from needle biopsy must be recognized quickly in patients with unexpected post-transplant kidney deterioration.

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In a mouse bone marrow transplant model, vaccinating donors with WT1 peptides — derived from a protein overexpressed in leukemia — and then transferring those donors' immune cells into leukemia-bearing recipients eliminated the cancer in ways neither treatment alone could achieve. The anti-tumor effect required CD4 T cell help and was mediated by CD8 T cells. The combination of peptide vaccination of donors and MHC-matched transplant is being tested in a clinical trial.

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Using gene expression data from diffuse large B-cell lymphoma tumors, the authors built a two-gene survival model combining a tumor-expressed gene (LMO2) and an immune microenvironment gene (TNFRSF9/CD137). This simple model added independent predictive power beyond the standard clinical prognostic index and validated across multiple independent patient cohorts including a formalin-fixed tissue cohort. The approach shows that tumor microenvironment immune signals meaningfully inform prognosis in lymphoma.

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This review covers emerging immunotherapy strategies for blood cancers, with a focus on drugs that modulate the immune system rather than directly attacking tumor cells. Discussed agents include agonistic antibodies targeting costimulatory receptors, Toll-like receptor activators, immunomodulatory drugs, and cytokines — all aimed at harnessing the immune system's own killing machinery. The authors argue for combining these agents with tumor-targeting antibodies for maximal effect.

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Adding an anti-CD137 agonist antibody to rituximab — used to treat B-cell lymphomas — enhanced NK cell killing of lymphoma cells in lab experiments, and produced potent anti-tumor activity in both mouse and human lymphoma models when given sequentially. NK cells upregulate CD137 after encountering rituximab-coated tumor cells, creating a window for the second antibody to amplify their response. This work supports a two-step immunotherapy strategy of first targeting the tumor, then activating the immune system.

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Two randomized double-blind trials totaling 2,130 patients compared a new extended-release formulation of rabeprazole to esomeprazole for healing moderate-to-severe erosive esophagitis. At 8 weeks, the two drugs performed equally well — rabeprazole-ER was non-inferior. Neither drug was superior at 4 weeks, and heartburn resolution rates were similar. Post-hoc analysis in the most severe grade D patients suggested possible benefit with rabeprazole-ER, but this needs confirmation.

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Researchers created a tumor vaccine by loading lymphoma cells with CpG — a molecule that stimulates immune signaling — then showed that T cells generated by this vaccine could eliminate large, established tumors when transferred into mice. The protective effect was carried by CD4 T cells, not CD8 T cells, an unexpected finding. This whole-cell CpG-loaded vaccine approach is practical and translatable, and has entered clinical testing.

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A comparison of wedge biopsy versus optimized needle biopsy for evaluating donor kidneys before transplant found that needle biopsy was significantly more sensitive at detecting tubular scarring and arterial narrowing — two important indicators of kidney quality. There was no significant difference in glomerular sampling between the two methods. The needle biopsy approach provides more reliable information to guide transplant decisions.

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This case report describes successful rescue of a kidney transplant threatened by acute arterial thrombosis in the hours after surgery, using operative clot removal followed by direct infusion of a clot-dissolving drug into the renal artery. Despite being a rare and typically graft-losing complication, prompt recognition and aggressive intervention saved the kidney. The case illustrates the importance of early diagnosis and the viability of thrombolytic therapy as part of the rescue strategy.

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Digital photographs of marginal donor livers, combined with biopsy and recovery surgeon reports, helped transplant centers at distant sites confidently accept organs they might otherwise have declined, minimizing cold ischemia time. Three cases illustrated how image availability facilitated transplantation, while a fourth showed a liver being discarded after arrival because no image was available. Digital imaging is a practical tool for improving utilization of extended-criteria donor livers.

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A 5-year-old girl who lost adrenal function after severe meningococcal infection received a combined kidney and adrenal gland transplant from her mother, with the adrenal tissue implanted into muscle. Three years later, her adrenal graft was still functioning — producing hormones in response to stimulation — and she no longer needed steroid replacement. This appears to be the first successful intramuscular adrenal allograft transplant reported with long-term follow-up.

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In the first clinical series of its kind, 20 patients received livers preserved by hypothermic machine perfusion rather than the standard cold storage method and were compared to matched controls. Machine-perfused livers showed lower injury markers, a trend toward fewer early dysfunction cases, shorter hospital stays, and no vascular complications. The results warranted further multicenter trials, which subsequently followed.